Movement Disorders Rehabilitation

Movement
Disorders
Rehabilitation
Hsin Fen Chien

Orlando Graziani Povoas Barsottini
Editors
123
Movement Disorders Rehabilitation
Hsin Fen Chien
Orlando Graziani Povoas Barsottini
Editors
Movement Disorders
Rehabilitation
Editors
Hsin Fen Chien Orlando Graziani Povoas Barsottini
Department of Neurology Department of Neurology
Hospital das Clnicas da Faculdade de Universidade Federal de So Paulo
Medicina da Universidade de So Paulo So Paulo, Brazil
So Paulo, Brazil
Department of Orthopedics and
Traumatology
Faculdade de Medicina da Universidade de
So Paulo
So Paulo, Brazil
ISBN 978-3-319-46060-4ISBN 978-3-319-46062-8(eBook)

DOI 10.1007/978-3-319-46062-8
Library of Congress Control Number: 2016959000
Springer International Publishing Switzerland 2017

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To my mother and father (in memoriam)
Love is patient, love is kind. It always
protects, always trusts, always hopes,
always perseveres. Love never fails.
To my loving and supportive family.
Hsin Fen Chien
To my parents Ruth and Orlando

(in memoriam).
Orlando Barsottini
Foreword
Up until 30years ago neurologists were typecast as brilliant, austere men who
talked with ease about areas of the brain that most other doctors had forgotten
existed. They adored diagnosis, many suffered from spanophilia and most had little
interest in time-consuming treatments.
Then neurorehabilitation arrived making the more go ahead neurologist realise
that there was now a lot to offer patients. Even its more Luddite exponents realised
that if they did not start to become more involved in the care of patients with chronic
neurological disability, then they faced extinction in both the public and private
health care systems.
The notion that external intervention could facilitate the brains plasticity and
potentially reduce the consequences of brain injury was a new exciting concept.
Specialist neurorehabilitation services now play a vital role in the management of
patients after their immediate medical and surgical needs have been met, in optimis-
ing their recovery and supporting their safe transition back to the community. Modern
technology is now increasingly being used to supplement physical and cognitive
therapies in restoring function in patients with traumatic brain injury and stroke.
With a few notable exceptions, neurologists with a special interest in the treat-
ment of movement disorders have been slow to embrace neurorehabilitation. Many
are sceptical of the neurobling of plasticity and functional imaging and look upon
the use of complementary approaches to therapy such as tango dancing and Tai Chi
with grave suspicion. This resistance to a more holistic treatment approach may in
part reflect the fact that abnormal movement disorders rarely present with devastat-
ing acute or subacute disability, and that a number of efficacious medical and surgi-
cal treatments are available for the commoner disorders. This has led to less
engagement with physical and speech therapists in comparison with, say, the field
of multiple sclerosis, so that despite the increasing evidence base and intriguing
preclinical and clinical science in the neurorehabilitation of movement disorders,
sophisticated state-of-the-art facilities are thin on the ground.
vii
viii Foreword
This excellent book edited by Chien Hsin Fen and Orlando Barsottini hopefully
draws movement disorder and neurorehabilitation specialists into a fascinating and
largely untapped fruitful field of research that has the potential to vastly improve the
lives of the thousands of people living with the disabilities caused by basal ganglia
dysfunction.
The National Hospital, Queen Square AndrewLees

London, UK
July 2016
Contents
1 Introduction.............................................................................................. 1
Hsin Fen Chien
2 Parkinsons Disease ................................................................................. 5
Hsin Fen Chien, Egberto Reis Barbosa, Carolina de Oliveira Souza,
Alice Estevo Dias, and Juliana Conti
3 Atypical Parkinsonism............................................................................ 45
Orlando Graziani Povoas Barsottini, Carolina deOliveiraSouza,
Giovana Diaferia, and Alberto J. Espay
4 Rehabilitation ofDystonia....................................................................... 67
Dirk Dressler and Fereshte AdibSaberi
5 Rehabilitation ofAtaxia........................................................................... 83
Marise Bueno Zonta, Giovana Diaferia, Jos Luiz Pedroso,
and Hlio A.G. Teive
6 Rehabilitation in Essential Tremor........................................................ 97
Maria Eliza Freitas and Renato P. Munhoz
7 Rehabilitation inChorea......................................................................... 105
Dbora Maia and Francisco Cardoso
8 Huntingtons Disease............................................................................... 115
Monica Santoro Haddad, Tamine Teixeira da Costa Capato,
and Mariana Jardim Azambuja
9 Movement Disorders inPediatrics......................................................... 129
Marcelo Masruha Rodrigues and Mariana Callil Voos
10 Future Perspectives: Assessment Tools andRehabilitation
intheNew Age.......................................................................................... 155
Greydon Gilmore and Mandar Jog
Index.................................................................................................................. 183
ix
Contributors
FereshteAdibSaberi, M.D. Movement Disorders Section, Department of

Neurology, Hannover Medical School, Hannover, Germany
MarianaJardimAzambuja, S.L.P., M.Sc. Department of Neurology, Hospital
das Clnicas da Faculdade de Medicina da Universidade de So Paulo, So Paulo,
Brazil
EgbertoReisBarbosa, M.D., Ph.D. Department of Neurology, Hospital das
Clnicas da Faculdade de Medicina da Universidade de So Paulo, So Paulo, Brazil
OrlandoGrazianiPovoasBarsottini, M.D., Ph.D. Department of Neurology,
Universidade Federal de So Paulo, So Paulo, Brazil
FranciscoCardoso, M.D., Ph.D., F.A.A.N. Movement Disorders Unit, Neurology
Service, The Federal University of Minas Gerais, Belo Horizonte, MG, Brazil
HsinFenChien, M.D., Ph.D. Department of Neurology, Hospital das Clnicas da
Faculdade de Medicina da Universidade de So Paulo, So Paulo, Brazil
Department of Orthopedics and Traumatology, Faculdade de Medicina da
Universidade de So Paulo, So Paulo, Brazil
JulianaConti, O.T. Department of Neurology, Hospital das Clnicas da Faculdade
de Medicina da Universidade de So Paulo, So Paulo, Brazil
TamineTeixeirada CostaCapato, P.T., M.Sc. Department of Physical Therapy,
Hospital das Clnicas da Faculdade de Medicina da Universidade de So Paulo, So
Paulo, Brazil
Carolinade OliveiraSouza, P.T., M.Sc. Department of Neurology, Hospital das
Clnicas da Faculdade de Medicina da Universidade de So Paulo, So Paulo, Brazil
GiovanaDiaferia, S.L.P., M.Sc. Department of Neurology, Universidade Federal
de So Paulo, So Paulo, Brazil
AliceEstevoDias, S.L.P., Ph.D. Department of Neurology, Hospital das Clnicas
da Faculdade de Medicina da Universidade de So Paulo, So Paulo, Brazil
DirkDressler, M.D., Ph.D. Movement Disorders Section, Department of
Neurology, Hannover Medical School, Hannover, Germany
xi
xii Contributors
AlbertoJ.Espay, M.D., M.Sc. Department of Neurology, University of Cincinnati,

Cincinnati, OH, USA
MariaElizaFreitas, M.D. Morton and Gloria Shulman Movement Disorders
Centre and the Edmond J.Safra Program in Parkinsons Disease, Toronto Western
Hospital, University of Toronto, Toronto, ON, Canada
GreydonGilmore, M.Sc., B.Sc. Physiology and Pharmacology, Western
University, London, ON, Canada
MonicaSantoroHaddad, M.D., M.Sc. Department of Neurology, Hospital das
Clnicas da Faculdade de Medicina da Universidade So Paulo, So Paulo, Brazil
MandarJog, M.D., F.R.C.P.C. Clinical Neurological Sciences, London Health
Sciences Centre, London, ON, Canada
DboraMaia, M.D., M.Sc. Movement Disorders Unit, Neurology Service, The
Federal University of Minas Gerais, Belo Horizonte, MG, Brazil
RenatoP.Munhoz, M.D., Ph.D. Morton and Gloria Shulman Movement Disorders
Centre and the Edmond J.Safra Program in Parkinsons Disease, Toronto Western
Hospital, University of Toronto, Toronto, ON, Canada
JosLuizPedroso, M.D., Ph.D. Department of Neurology, Universidade Federal
MarceloMasruhaRodrigues, M.D., Ph.D. Division of Child Neurology,
Universidade Federal de So Paulo, So Paulo, Brazil
HlioA.G.Teive, M.D., Ph.D. Universidade Federal do Paran, Curitiba, PR,
Brazil
MarianaCallilVoos, P.T., Ph.D. Department of Physical Therapy, Faculdade de
Medicina da Universidade de So Paulo, So Paulo, Brazil
MariseBuenoZonta, P.T., Ph.D. Universidade Federal do Paran, Curitiba, PR,
Brazil
Introduction
1
HsinFenChien
Movement Disorders andRehabilitation
Movement disorders (MD) represent an area of neurological dysfunction based on

clinical phenomenology rather than on an anatomical location. The term was coined
in 1968 by Stanley Fahn and was quickly adopted by the neurological community.
Movement disorders could be defined as neurological syndromes in which there
is either an excess of movement or a paucity of voluntary and automatic move-
ments, unrelated to weakness or spasticity. The former are commonly referred to as
hyperkinesia (excessive movements), dyskinesia (unnatural movements), and
abnormal involuntary movements. The paucity of movement group is referred to as
hypokinesia (decreased amplitude of movement), bradykinesia (slowness of move-
ment) and akinesia (loss of movement) [1].
The key factor for the modern classification of MD is the phenomenology of the
movements. The conditions are therefore grouped into two major groups: hyperki-
nesia (ataxia, athetosis, ballism, chorea, dyskinesia, dystonia, hemifacial spasm,
hyperekplexia, myoclonus, tics, tremor, restless legs), and hypokinesia (bradykine-
sia/parkinsonism, freezing, catatonia).
The list of the diseases is constantly expanding, as does MD as a subspecialty of
neurology. A survey conducted by the American Academy of Neurology in 2008
reported that 9% of the residents going into a fellowship chose MD.Moreover, general
internists, family physicians, and neurologists were questioned about three
H.F. Chien, M.D., Ph.D. (*)

Department of Neurology, Hospital das Clnicas da Faculdade de Medicina da Universidade
Department of Orthopedics and Traumatology, Faculdade de Medicina da Universidade
e-mail: [email protected]
Springer International Publishing Switzerland 2017 1

H.F. Chien, O.G.P. Barsottini (eds.), Movement Disorders Rehabilitation,
DOI10.1007/978-3-319-46062-8_1
2 H.F. Chien
neurological conditions: transient cerebrovascular events, dementia and Parkinsons

disease (PD). For the issue of the transient event, over 50% of internists felt that the
primary care physicians should manage the condition alone; for dementia over 70%
felt the same. Only for PD was there a majority recommending referral to a MD spe-
cialist [2].
Shih etal. [3] surveyed the approximate percentage of diagnoses and conditions
seen in movement disorders clinics in North America and the frequency was: PD
51.9%, dystonia 15.1%, tremor 13.7%, ataxia 7.5%, and others MD 10.7%. There
is a high frequency of PD in MD clinics worldwide as it is the second most common
neurodegenerative disorder after Alzheimers disease. Because of the combination
of the aging process and a chronic condition, it represents an economic burden for
the patient and for payers.
According to Kowal etal. [4], the population with PD in the USA incurred medi-
cal expenses of approximately $14 billion in 2010. Nursing home care is a major
contributor to the medical cost burden, whereas reduced employment is a major
indirect cost of PD.
Another study conducted by Johnson etal. [5], demonstrated that slowing dis-
ease progression by any disease modification treatment would reduce the symptom
burden and be cost-effective. A scenario where PD progressed 20% slower than a
hypothetical base case resulted in net monetary benefits of a 25% reduction in
excess costs spread over a longer expected survival period.
The burden of chronic conditions such as PD is projected to grow substantially
over the next few decades as the size of the elderly population grows. Such projec-
tions give impetus to the need for innovative new treatments to prevent, delay onset,
or alleviate symptoms of PD and other similar diseases, Kowal etal. [4] concluded.
However, preventing, delaying or alleviating any chronic debilitating condition,
which is the case in most MDs, by reducing the cost burden should not be the only goal
of any treatment; the quality of life of patients and caregivers should also be improved.
Quality of life (QoL) is defined as individuals perception of their position in
life in the context of the culture and value systems in which they live and in rela-
tion to their goals, expectations, standards and concerns. It is a broad ranging
concept acted in a complex way by the persons physical health, psychological
state, level of independence, social relationships and their relationship to salient
features of their environment [6].
Chronic conditions are associated with increased physical impairment, which
leads to a reduced positive affect, reduced control/autonomy, and less enjoyment
and fulfillment in life [7]. Most MD conditions are chronic and the involuntary
movements impair physical functions. In the case of PD, the nondopaminergic
motor features, including impairment in gait, postural control, and falls, become the
sources of disability [8] and poorer QoL.
A systematic review to identify the demographic and clinical factors that predict
the health-related QoL of people with PD concluded that depression, disease sever-
ity, and disease disability were found to predict poor quality of life. The motor
system that contributed most to overall life quality was gait impairment [9]. Shulman
1Introduction 3
etal. [10] analyzed the evolution of disability in PD and concluded that the period
of disability in PD occurs between total Unified Parkinson Disease Rating Scale
(UPDRS) 30 and 60, between Hoehn and Yahr (HY) stages II to III, and 37 years
after diagnosis. The stage of preclinical disability can potentially be targeted by
pharmacological and nonpharmacological interventions to delay disability. They
also identified that gait impairment was the leading cause of disability in PD.
A quick search in the literature will guide the reader to many research studies
showing improvement in PD patients motor symptoms, including gait, with diverse
rehabilitation programs and improvement of their QoL [11]. This is also true for the
second most common condition seen in an MD clinic, dystonia. Queiroz etal. [12],
carried out a physical therapy program in cervical dystonia patients and observed
not only symptomatic improvement of dystonia, but also of their QoL.
According to the World Health Organization, rehabilitation is defined as a set of
measures that assist individuals who experience or are likely to experience disabil-
ity to achieve and maintain optimal functioning in interaction with their environ-
ments, is instrumental in enabling people with functional limitations to remain in or
return to their home or community, to live independently, and to participate in edu-
cation, the labor market, and civic life.
Moreover, the rehabilitation measures are aimed at achieving: prevention and
slowing the rate of loss of function; improvement or restoration of function; com-
pensation for loss of function; and maintenance of current function.
In other words, rehabilitation of people with disabilities is a process aimed at
enabling them to reach and maintain their optimal physical, sensory, intellectual,
psychological, and socialfunctional levels. Rehabilitation provides disabled peo-
ple with the tools they need to attain independence and self-determination [13].
For the rehabilitation process to be effective and help chronically disabled
patients to regain or maintain their functions, the participation of an effective and
qualified team is essential [14]. It is not within the scope of this chapter to discuss
the advantages or disadvantages of different models of professional teams (multi-
disciplinary, interdisciplinary or transdisciplinary) and which is advocated for the
care of MD patients.
Although the recent literature has provided evidence of the benefits of rehabilita-
tion in MD many points remain unanswered and future studies should address these
questions. Most of the clinical trials indicate good results with rehabilitation inter-
vention, but they are of short duration and cannot be translated to measure long-
term benefits. The definition of a rehabilitation team is vast and the composition of
health-allied professionals varies from study to study. A definition of what consti-
tutes the minimal requirements for a multidisciplinary team for MD trials is needed.
There is no consensus in assessment tools to rate rehabilitation interventions in
many MD diseases. The dose and frequency of the intervention is also problematic:
how much is enough? The environment in which studies are conducted varies from
community to outpatient and inpatient settings. Furthermore, different stages of the
disease require different rehabilitation strategies and management approaches.
Good robust studies should answer these questions.
4 H.F. Chien
References
1. Fahn S.Classification of movement disorders. Mov Disord. 2011;26:94757.
2. Farbman ES.The case for subspecialization in neurology: movement disorders. Front Neurol.
2011;2:22.
3. Shih LC, Tarsy D, Okun MS.The current state and needs of North American movement
disorders fellowship programs. Parkinsons Dis. 2013;2013:701426. doi:10.1155/2013/701426.
4. Kowal SL, Dall TM, Chakrabarti R, Storm MV, Jain A.The current and projected economic
burden of Parkinsons disease in the United States. Mov Disord. 2013;28:31118.
5. Johnson SJ, Diener MD, Kaltenboeck A, Birnbaum HG, Siderowf AD.An economic model of
Parkinsons disease: implications for slowing progression in the United States. Mov Disord.
2013;28:31926.
6. The World Health Organization Quality of Life Assessment (WHOQOL): development and
general psychometric properties. Soc Sci Med. 1998; 46:156985.
7. Sexton E, King-Kallimanis BL, Layte R, Hickey A.CASP-19 special section: how does
chronic disease status affect CASP quality of life at older ages? Examining the WHO ICF dis-
ability domains as mediators of this relationship. Aging Ment Health. 2015;19:62233.
8. Rochester L, Espay AJ.Multidisciplinary rehabilitation in Parkinsons disease: a milestone
with future challenges. Mov Disord. 2015;30:101113.
9. Soh SE, Morris ME, McGinley JL.Determinants of health-related quality of life in Parkinsons
disease: a systematic review. Parkinsonism Relat Disord. 2011;17:19.
10. Shulman LM, Gruber-Baldini AL, Anderson KE, Vaughan CG, Reich SG, Fishman PS, Weiner
WJ.The evolution of disability in Parkinson disease. Mov Disord. 2008;23:7906.
11. Monticone M, Ambrosini E, Laurini A, Rocca B, Foti C.In-patient multidisciplinary rehabili-
tation for Parkinsons disease: a randomized controlled trial. Mov Disord. 2015;30:10508.
12. Queiroz MA, Chien HF, Sekeff-Sallem FA, Barbosa ER.Physical therapy program for cervical
dystonia: a study of 20 cases. Funct Neurol. 2012;27:18792.
13. WHO Guidelines on Health-Related Rehabilitation (Rehabilitation Guidelines). 2016. http://
who.int/disabilities/care/rehabilitation_guidelines_concept.pdf. Accessed 27 Mar 2016.
14. Shortell SM, Marsteller JA, Lin M, Pearson ML, Wu SY, Mendel P, etal. The role of perceived
team effectiveness in improving chronic illness care. Med Care. 2004;42:10408.
Parkinsons Disease
2
HsinFenChien, EgbertoReisBarbosa,
CarolinadeOliveiraSouza, AliceEstevoDias,
andJulianaConti
Overview ofParkinsons Disease
Introduction
Parkinsons disease is the second most common neurodegenerative disorder world-

wide and its prevalence ranges from 18 to 418 cases per 100,000 of the population
and 102190 per 100,000in Western countries [1]. It affects both men and women,
but is a little more common in men.
The disease typically develops after the age of 50 and may affect up to 2% of
the population older than 65 years. The projection of number of people with PD
will double in 2050 because the population is aging [2]. Early-onset PD denotes
onset of the disease below the age of 40 years and juvenile PD when the age is
below 21 years.
H.F. Chien, M.D., Ph.D.

Department of Orthopedics and Traumatology, Faculdade de Medicina da Universidade
E.R. Barbosa, M.D., Ph.D. (*) C. deOliveiraSouza, P.T., M.Sc. A.E. Dias, S.L.P., Ph.D.
J. Conti, O.T.
e-mail: [email protected]; [email protected]; [email protected]

DOI10.1007/978-3-319-46062-8_2
6 H.F. Chien et al.
Pathological Features
The anatomopathological abnormalities of PD are characterized by neuronal loss and

intraneuronal inclusions known as Lewy bodies [3]. These cytoplasmic eosinophilic
inclusions are composed of free and ubiquitin-conjugated proteins, enzymes, and
cytoskeletal proteins. The proteinaceous material includes neurofilament protein,
ubiquitin, and alpha-synuclein (AS). The core consists of aggregates of ubiquitin-
conjugated protein and the halo of neurofilament protein and alpha-synuclein.
It is believed that the degeneration process begins decades before the first motor
signs appear. Lesions initially occur in Auerbachs and Meissners myenteric plex-
uses, olfactory bulb, and the lower brain stem. Thereafter, the substantia nigra (SN),
basal prosencephalic nuclei, and the limbic system are affected. Lewy bodies are
found in cortical association areas in later stages of the disease [4]. In the prodromal
phase, or pre-motor stage, symptoms such as hyposmia, gastrointestinal dysfunc-
tion, depression, and sleep disturbances (i.e., rapid eye movement [REM]) may be
the initial features of the disease.
Etiopathogenesis
The etiology of PD is not fully understood, it is likely that there is a complex inter-
action of environmental, genetic, and physiological factors, such as the aging pro-
cess. The evidence for the environmental influences is derived from case reports of
parkinsonism due to exposure to toxic agents, neurotoxin-induced parkinsonism in
animal models, and epidemiological studies on risk factors for PD.
Van Maele-Fabry etal. [5], systematically reviewed cohort studies and verified
that occupational exposure to pesticides increases the risk of PD.The main toxic
compounds related to PD are heavy metals (e.g., manganese), pesticides (e.g., rote-
none), and herbicides (e.g., paraquat).
On the other hand, regular coffee intake and smoking reduce the risk of
PD.More than 50 studies have consistently demonstrated that smokers are less
likely to develop the disease than people who never smoked and some studies sug-
gest that nicotine may be neuroprotective. However, in patients in whom PD has
already been diagnosed, disease progression is not affected by cigarette smoking
[6, 7]. Caffeine blocks adenosine A2A receptors that are highly expressed in the
basal ganglia circuitry, especially in the striatum. Istradefylline, an adenosine
A2A receptor blocker, has a symptomatic effect on PD patients and is possibly a
neuroprotector [8].
Recently, a theory has been proposed linking the protective effect of smoking
and coffee consumption and the hypothesis of the gut as the origin of PD.According
to the researchers, both cigarettes and coffee may induce changes in the composi-
tion of microbiota, with a shift toward a more anti-inflammatory state, which less-
ens the formation of misfolded alpha-synuclein in enteric nerves [9].
Our knowledge regarding the genetic basis of PD has increased remarkably since
the identification of the first gene causing PD (SNCA, formerly PARK1) by
2 Parkinsons Disease 7
Polymeropoulos etal. [10]. The causative genes have not yet been established for
the 20 loci hitherto related to PD.These loci have been identified by genetic linkage
analysis in large families or genome-wide association studies on a population. Some
mutations confer higher susceptibility to the development of the disease, but the
study of monogenic forms led to the identification of genes causing either autoso-
mal dominant (SNCA, LRRK2, VPS35), or autosomal recessive (PARK2, DJ1,
PINK1, ATP13A2) familial PD.
Ageing is an important risk factor for developing PD and it can be observed in
epidemiological data. The disease occurs infrequently under the age of 40, but
affects over 1% of population after 60 years of age and rises to 5% of the population
over 85 [11].
The degeneration of SN pars compacta neurons is irreversible and results in the
reduction of dopamine production, leading to functional abnormalities in the basal
nucleus pathways. Neuropathological studies indicate that the rate of neuronal loss
in the SN ranges between 5 and 10% for each decade [12, 13]. The proportion of
neuronal fallout is much higher than what is observed in neocortical neurons, which
is approximately 10% over the entire life span [14].
After the discovery of alpha-synuclein as the primary structural component of
Lewy bodies, researchers have focused on understanding its role in mechanisms
underlying neuronal death. It is assumed that an imbalance between the aggregation
of AS and its clearance, via the ubiquitin proteasome pathway or autophagy, can
result in accumulation of oligomers, protofibrils, and fibrils [15]. These aggregates,
which may be toxic, interfere in critical cellular functions, particularly mitochon-
drial activity and axonal transport.
Moreover, it is important to mention the identification of toxic AS being elimi-
nated from the neurons via unusual secretory mechanisms. These extracellular AS
can disseminate to others neurons or glial cells and trigger intracellular aggrega-
tions that promote the neurodegenerative process. This conjecture derived from the
postmortem analysis of brain from PD patients who had undergone brain tissue
transplantation. Accumulation of AS and Lewy bodies were found in previous unre-
markable fetal grafted neurons [16]. These findings have raised the hypothesis that
AS propagation might behave as a prion-like disease.
There is a large body of evidence suggesting that mitochondrial dysfunction
plays a central role in the etiopathogenesis of PD.The neurotoxins rotenone and
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) induce parkinsonism by
inhibiting the mitochondrial complex I electron transport chain. Several
PD-associated genes interface with pathways regulating mitochondrial function
[17] or in mitophagy, which is the specific and selective targeted removal of excess
or damaged mitochondria from the cell via autophagy.
Recently, inflammation has become implicated as a major pathogenic factor in
the onset and progression of Parkinsons disease [18]. Reactive microgliosis, T cell
infiltration, and increased expression of inflammatory cytokines are prominent fea-
tures of the inflammatory process [19]. Recent reports indicate that accumulated
aggregated AS can be actively secreted or released by dying neurons to the extracel-
lular space; extracellular AS in turn activates surrounding astrocytes and microglia,
eliciting glial pro-inflammatory activity.
8 H.F. Chien et al.
Clinical Manifestation
Four motor symptoms are considered cardinal in PD: resting tremor, rigidity, brady-
kinesia, and postural instability. For the diagnosis of parkinsonian syndrome, the
presence of bradykinesia is necessary in association with one of the other three
symptoms to ascertain nigrostriatal dopaminergic pathway degeneration.
Bradykinesia is a motor abnormality characterized by a lack of movement and a
slowness in the initiation and execution of voluntary and automatic movements
associated with difficulty in changing motor patterns, in the absence of motor weak-
ness. This motor dysfunction may also encompass the decrement of repetitive
movements, fatigue, and problems in performing more than one task at the same
time. Patients also suffer a decline in their fine motor skills, which can lead to dif-
ficulties with buttoning clothes, brushing teeth, cutting food, writing or typing on
the computer keyboard.
Other motor abnormalities related to bradykinesia are reduced facial expres-
sion (hypomimia), body gestures, and automatic swallowing reflex; this last
results in excessive saliva in the mouth and drooling (sialorrhea). The gait is char-
acterized by small quick steps and a reduced arm swing. Patients may also have
trouble initiating or continuing movement (freezing), and quickening their normal
stride (festination). The typical configuration of speech changes associated with
bradykinesia (phonation, resonance, articulation, and prosody) is known as hypo-
kinetic dysarthria.
Rigidity is one of the major signs of PD and is characterized by increased stiff-
ness experienced during passive mobilization of a limb, which remains in the posi-
tion that has been imposed after stretching and for this reason is termed plastic
hypertonia. The hypertonia can be constant or intermittent (cogwheel phenome-
non). It affects preferentially the flexor muscles leading to a classical abnormal
posture (simian) with flexion of the hips and knees.
Parkinsons tremor is clinically characterized by a resting tremor, which enhances
when walking and during mental stress, diminishes by voluntary Parkinsons dis-
ease (PD) clinical manifestation movement of the affected body part, and disap-
pears during sleep. It occurs at frequency between 4 and 6Hz and predominantly
affects the hands, progressing to forearm pronation/supination.
Postural instability is associated with increased falls and loss of independence.
Many factors contribute to balance impairment, including disturbed postural reflexes
and poor voluntary movement control. It can be present at diagnosis, but becomes
more prevalent and worsens with disease progression [20].
Nonmotor symptoms in PD are common and affect cognition, behavior, sleep,
autonomic function, and sensory function. Mild cognitive changes may be present
at the time of diagnosis or even early in the course of the disease. Approximately
1520% of patients develop dementia in the advanced phase of PD.The patients
may experience depression at any stage of the disease and its prevalence in PD is
about 40%. Autonomic symptoms in PD can include constipation, pain, genitouri-
nary problems, and orthostatic hypotension.
Diagnosis
The diagnosis of PD relies mainly upon medical history and neurological examina-
tion and tests are ordered to rule out other conditions. The hallmarks for improving
diagnostic accuracy in PD are: (a) absence of atypical parkinsonism (early severe
autonomic involvement, early severe dementia, Babinski sign, supranuclear gaze
palsy, neuroleptic treatment at onset of symptoms, history of repeated strokes, and
history recent encephalitis) and (b) unilateral onset [21, 22].
Differential Diagnosis
The Parkinsonian syndrome encompasses neurological conditions other than PD,

and it can be grouped as secondary parkinsonism and degenerative atypical
parkinsonism.
Drug-induced parkinsonism (DIP) is the most common etiology of secondary
parkinsonism. These substances block central nerve system D1 and D2 dopamine
receptors highly expressed in the striatum, where most of the nigral dopaminergic
projections are found. The most common drug related to DIP is neuroleptic, with
the exception of clozapine, which displays a high affinity for the dopamine D4
receptor, which in turn has a low density in the human striatum. Many other medica-
tions are known to produce DIP: calcium channel blockers, gastrointestinal proki-
netics (antiemetics), and dopamine-depleting drugs. The symptoms usually resolve
within weeks to months after stopping the offending drug.
Other causes of secondary parkinsonism may be identified properly by anamne-
sis and laboratory tests. MRI is also used to identify features that may indicate
secondary parkinsonism such as normal pressure hydrocephalus, brain tumor, and
basal ganglia calcification.
Atypical parkinsonism or Parkinson-plus are terms used to describe syndromes
that share features similar to PD (usually akinesia and rigidity), but are different
conditions. Frequently associated symptoms are dysautonomia, cerebellar signs,
pyramidal tract signs, and ocular signs. The presentation is usually symmetrical and
the patients respond poorly to antiparkinsonian drugs. Parkinson-plus syndromes
can be broadly grouped into two types: synucleinopathies and tauopathies.
Clinically, the most common forms of atypical parkinsonism are as follows: multi-
ple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal gan-
glionic degeneration (CBD), and dementia with Lewy bodies (DLB).
A good response to antiparkinsonian drugs supports the diagnosis of PD,
although up to 20% of PSP [23] and 50% of MSA patients [24] initially have a
good response to levodopa. Particularly in MSA, some patients maintain a response
throughout the course of the illness.
Parkinsons disease has a slow progression and the patients are usually indepen-
dent in the first 5years after the diagnosis. Rapidly evolving parkinsonism or dis-
ability raise a high degree of suspicion for atypical parkinsonism. Levodopa-induced
dyskinesia development after a long and sustained response to levodopa is indica-
tive of idiopathic PD.
10 H.F. Chien et al.
Neuroimaging techniques (computed tomography and magnetic resonance imag-

ing [MRI]), single photon emission computed tomography (SPECT), and positron
emission tomography (PET) are useful for differentiating PD from other parkinso-
nian disorders. These functional techniques use different radiotracers to measure
dopaminergic function in the basal ganglia and can be indicated for supportive diag-
nostic aid [25].
Transcranial ultrasound detects ultrasound echoes from the brain structures.
About 90% of patients with clinically established PD were reported to show bilater-
ally increased echogenicity from the lateral midbrain [26]. Although it is a promis-
ing technique, increased echogenicity was reported in 10% of healthy individuals.
Olfactory dysfunction is an early feature of PD and a smelling test may aid in the
early diagnosis of this disorder. Olfactory dysfunction often precedes the onset of
the cardinal motor symptoms of PD by several years. The testing can be a support-
ive diagnostic tool in differentiating PD from other parkinsonian disorders or essen-
tial tremor [27].
Diffusion-weighted imaging (DWI), a different MRI technique, has been used
for the differential diagnosis of PD and MSA.DWI is commonly used to determine
the random movement of water molecules that are aligned with fiber tracts in the
central nervous system. Quantification of diffusion is possible by applying field
gradients of different degrees of diffusion sensitization. DWI enables the assess-
ment of the waters apparent diffusion coefficient (ADC), a measure of tissue water
diffusivity, and may detect changes in the microstructural integrity of nervous tissue
earlier than conventional T1- or T2-weighted MRI [28, 29].
The loss of SN dopaminergic neurones, which is most prominent in sub-regions
called nigrosomes, is the hallmark of PD.The largest nigrosome of the five nigro-
somes described is labeled nigrosome-1 and positioned in the caudal and mediolat-
eral SN.Schwarz etal. [30], demonstrated that healthy nigrosome-1 can be readily
depicted on high-resolution 3T-susceptibility-weighted (SW)-MRI, giving rise to a
swallow tail appearance of the dorsolateral substantia nigra, and this feature is
lost in PD.Therefore, assessing the substantia nigra on SW-MRI for the typical
swallow tail appearance has the potential to become a new applicable diagnostic
tool for nigral degeneration in PD.
Recently, Al-Bachari etal. [31] utilized a novel MRI technique, including arterial
spin labeling (ASL) quantification of cerebral perfusion, and identified altered neu-
rovascular status in PD.The authors hypothesized that disturbance of the neurovas-
cular unit function, which is a complex, metabolically active system of endothelial
cells and glial cells in close proximity to a neuron, is altered in the neurodegenera-
tion process leading to their findings.
Symptomatic Management
Levodopa
Levodopa is the most effective drug for the treatment of symptoms of PD.In the
1970s, the advantages of adding a dopa decarboxylase inhibitor to treatment, to
reduce the peripheral metabolism of levodopa, were discovered to reduce side
effects and gain better symptom control. Treatment with levodopa contributes to
greater activity levels, independence, employability, and consequently improve-
ment in the patients quality of life (QoL) [32, 33].
ong-Term Motor Complications ofLevodopa Treatment

L
Levodopa preparations lead in the long term to the development of motor compli-
cations. These comprise abnormal involuntary movements such as dyskinesia and
dystonia, along with response fluctuations. Dyskinesia are classified according to
their temporal profile after drug administration, namely peak-dose dyskinesia
(mainly choreic movements), biphasic dyskinesia, onset and end-of-dose dyski-
nesia (mainly dystonic and ballistic movements), and finally off-period dyski-
nesia (dystonic movements). Motor fluctuations comprise wearing off, the onoff
phenomenon, and freezing.
The pathogenesis of motor complications associated with chronic levodopa ther-
apy is not fully understood. Some of the theories include: presynaptic neuronal
degeneration leading to insufficient buffering of released levodopa, postsynaptic
changes in dopamine receptor sensitivity and number, partially caused by presynap-
tic changes, and pharmacokinetic and pharmacodynamic change in chronic dopami-
nergic therapy [34, 35].
Catechol-O-methyl Transferase Inhibitors

When peripheral decarboxylation is blocked by carbidopa or benserazide, the main
metabolic pathway of levodopa is O-methylation by catechol-O-methyltransferase
(COMT). COMT inhibitors improve the bioavailability and decrease the elimina-
tion of levodopa, and inhibit the formation of 3-O-methyldopa.
Entacapone inhibits COMT peripherally and tolcapone inhibits it centrally and
peripherally. These drugs prolong the antiparkinsonian effect of the levodopa and
also allow reduction of the dose. The combination of COMT inhibitors and levodopa
is indicated in patients with wearing off.
Dopamine Agonists
Dopamine agonists (DAs) work by directly stimulating dopamine receptors in the
brain. There are two subclasses of DA: ergoline and non-ergoline agonists. Ergoline
dopamine agonists include bromocriptine, pergolide, lisuride, and cabergoline,
whereas ropinirole, rotigotine, and pramipexole are non-ergoline agonists.
Apomorphine was the first DA shown to improved PD symptoms, but has to be
administered subcutaneously.
Dopamine agonists have been used as a monotherapy in de novo patients with the
intention of delaying treatment with levodopa. They are also used as an adjunct to
levodopa treatment in patients exhibiting motor fluctuation. The use of DA rather
than levodopa appears to postpone the onset of motor complications and dyskinesia.
Motor complications may be related to the pulsatile use of levodopa, which leads to
an imbalance of basal ganglia opioid concentrations and the resetting of voltage
gated channels in N-methyl-d-aspartate (NMDA) receptors. Meanwhile, DAs have
a longer half-life and differences in receptor selectivity.
Anticholinergics
The oldest class of medicines for treating PD is the anticholinergic (ACH) drugs.
Biperiden and trihexyphenidyl reduces cholinergic activity contributing to reestab-
lishing the balance between cholinergic and dopaminergic activity in the striatum. The
most recognized use of ACHs is for treating tremors in early or young onset PD, but
they do not significantly affect bradykinesia or rigidity. The most common side effects
of ACHs include dry mouth, blurred vision, constipation, and difficulty emptying the
bladder. Geriatric patients may react with confusional states or develop delirium.
Amantadine
Amantadine, originally used as an antiviral drug, was coincidentally realized to be
a treatment for PD, despite being a weak therapy. The drug increases dopamine
release and blocks dopamine reuptake. Recent studies have demonstrated it to be a
weak antagonist of the NMDA glutamate receptor. Thus, amantadine can influence
glutamatergic neurotransmission at corticostriatal synapse or at the subthalamic
internal pallidal synaptic level. Moreover, recent randomized clinical trials have
also shown that amantadine reduces dyskinesia and motor fluctuations in patients
receiving levodopa [32].
isease-Modifying Drugs (Neuroprotection)

D
The two potentially disease-modifying drugs available are selegiline and rasagiline.
Both are selective and irreversible monoamine oxidase B (MAO B) propargylamine
inhibitors.
Selegiline undergoes hepatic metabolism and the major plasma metabolites are
l-methamphetamine, amphetamine, and desmethyl-selegiline. The resultant
amphetamines may cause side effects such as: blood pressure oscillations, arrhyth-
mia, and insomnia.
The neuroprotective effect of selegiline was observed in studies with drug-nave
early PD patients. Compared with placebo, selegiline delayed the need for PD
symptomatic therapy. However, given the symptomatic effect of selegiline, conclu-
sions could not be drawn regarding the disease-modifying effect of the drug. The
symptomatic effect of the MAO B inhibitor in PD is attributed to its ability to pro-
long the duration of action of both endogenously and exogenously derived dopa-
mine. It is especially indicated for the initial phase of PD treatment and the
recommended dose is 10mg/day.
Rasagiline is a second-generation MAO B inhibitor for the treatment of PD. The
recommended dose is 1mg/day. Unlike selegiline, rasagiline metabolites have no
amphetamine-like characteristics, which results in a safer profile and fewer adverse
effects [34]. The FDA rejected the granted status to slow the clinical progression
of PD for rasagiline as sensitivity analyses did not support a disease-modifying
benefit. As a result, the FDA has approved it only as a therapy for PD [36]. The
drugs symptomatic effect has been proven in monotherapy or in association with
levodopa [37].
Surgery
Deep brain stimulation (DBS) is the neurosurgical procedure for the treatment of
levodopa-related motor complications. The overall motor effect of subthalamic
nucleus stimulation is quantitatively comparable with that obtained with levodopa,
but without fluctuations and allows the reduction of dopaminergic medication,
secondarily relieving the dyskinesia.
Traditionally, patients with PD are usually referred for DBS 1015 years after
the onset of the disease. However, Schepbach etal. [38] conducted a trial with PD
patients and early motor complications (mean duration of disease, 7.5years) in
which they underwent either neurostimulation plus medical therapy or medical ther-
apy alone. Neurostimulation was superior to medical therapy with regard to motor
disability, activities of daily living (ADLs), levodopa-induced motor complications,
and time with good mobility and no dyskinesia.
Most clinical studies have excluded older patients (>75years) from surgery.
Nevertheless, DeLong etal. [39] performed a large retrospective cohort study and
examined 1,757 individuals who underwent DBS for PD.Patients older than 75
years of age who had DBS surgery showed a similar 90-day complication risk to
their younger counterparts. The authors concluded that age alone should not be a
primary exclusion criterion for determining candidacy for DBS.
Physical Therapy inParkinsons Disease
Introduction
Physical therapy (PT) is indicated as adjuvant treatment in PD because most of the

motor deficits that lead to loss of independence, falls, and inactivity are difficult to
treat with medications and surgery. The number of PT studies in PD has increased
considerably in the last few decades, and there is growing evidence that rehabilita-
tion programs (physical, speech and occupational therapy) are effective in improv-
ing motor deficits, QoL, and activities of daily living [40].
Many important studies allowed the elaboration of guidelines for evidence-based
clinical practice [4143]. According to Keus etal. [41], the six specific core areas
for PT in PD are: (1) gait, (2) balance and falls; (3) posture; (4) transfers; (5) manual
activities; (6) physical capacity (exercise). When designing a rehabilitative program
for PD, exercise should be goal-based, that is, aimed at practicing and learning
specific activities in the core areas that are impaired (for instance, balance and gait
control), thus leading to improved performance in ADLs. It should be considered
that the main goals of physiotherapy for PD are person-specific and linked to the
stage of disease progression, thus requiring an accurate physical examination and
specific measurement tools (Fig.2.1).
Fig. 2.1 Treatment model for Parkinsons disease (PD; adapted from Keus etal. [42])
Specific Issues inPhysiotherapy forPD (Cues)
In 2000, Morris described the theoretical framework supporting the use of PT in

PD.The model was based on the pathophysiology of movement disorders in basal
ganglia disease, on scientific evidence, and on personal observations of PT interven-
tions in PD.Morris described task-specific strategies for improving the performance
of activities (e.g., gait, turning in bed, manual activities, and transfers such as sitting
down), the prevention of falls, and the maintenance of physical capacity (e.g., mus-
cle force and aerobic capacity). These strategies incorporate the use of external cues
and cognitive movement strategies.
External cues include visual, auditory, or proprioceptive stimuli that are either
presented rhythmically or serially (to improve the continuation of gait) or as iso-
lated one-off cues (to initiate movements such as gait or transfers). By applying
external stimuli instead of the usual internal cues (which normally happens in the
healthy brain), alternative circuitries in the brain can be engaged to accomplish the
task, while avoiding the defective basal ganglia circuitry [44].
With cognitive movement strategies, complex movements are broken down into
separate components. Subjects are trained to perform each of the components sepa-
rately, and to pay conscious attention to their execution. Mental rehearsing is part of
this training. Cognitive movement strategies are mainly used to improve the perfor-
mance of complex movements such as transfers or manual activities. Morris also
stressed the importance of involving the caregiver to optimize therapy.
Goodwin etal. [45], in a systematic review reported the results of PT interven-
tions in patients with PD.The majority of the studies showed that the PT was benefi-
cial for the improvement of functionality, QoL, muscular strength, gait velocity, and
balance. Keus etal. [41] reinforce that PT treatment should be based on the follow-
ing recommendations: (1) external cue strategies; (2) cognitive strategies for move-
ment, in which complex movements are divided into simple subcomponents to be
memorized by the patients and executed in a specific order, under conscious
controlbefore the execution of a task, the patient should be guided to practice it

mentally (with the objective of overcoming the deficits of sequential movement
automatization caused by disorders of the basal ganglia); and (3) balance and gait
training with dual tasks and memorized cues. The PT approach to gait and balance
disorders in PD has attracted the attention of the scientific community and health
professionals over the last few years, because it is known that these disorders are
determinants of the decrease in QoL and increase in mortality [46].
The beneficial effects of external cues in the improvement of gait and the decrease
in freezing of gait (FOG) episodes are well established in the literature [47]. People
with PD could benefit from external cues that are largely used to compensate for the
deficiency of the basal ganglia in selected cases and trigger internally learned motor
programs [48]. External cues act as potential facilitators of cognitive gait control by
selective attention and increase the gait prioritization, mainly during the perfor-
mance of complex tasks [49, 50]. For example, using a metronome or clapping
hands to the rhythm of the steps or, taping horizontal lines on the floor that the
patient must cross at each step passage.
ueing via Devices

C
The use of portable cueing devices has proven effective for the rehabilitation of gait
disorders in patients with PD.These devices are currently being developed, incor-
porating new technologies. Walking sticks [51] and rolling walkers [52] projecting
a laser line on the floor have shown efficacy in overcoming FOG and reducing falls
in some but not all patients [51].
Light-emitting diodes (LEDs) [53] and auditory devices incorporated into glasses
are effective in improving gait parameters in laboratory settings [54]. The studies
showed that even with the low serum level of levodopa, some patients could use
visual and auditory cues to perform large stride lengths and increase gait velocity.
Eyeglasses combining auditoryvisual cueing are also effective on gait in advanced
PD.Souza etal. [55], used the device in 18 patients who received subthalamic
nucleus DBS and gait improvement was observed in the cued condition. These
devices hold great promise for becoming personalized, patient-tailored neuroreha-
bilitation assistants in PD (Fig.2.2).
Gait
ual Task Training ofGait andCognition

D
Many studies address the influence of the cognitive process on posture and gait
control. In the last decade the relationship between gait and cognitive functions has
received more attention from researchers [56, 57]. In fact, there are cognitive com-
ponents in the generalization and maintenance of a consistent and normal pattern of
gait [58]. The cognitive deficiencies, particularly the executive functions in patients
with PD, contribute to the decline in functionality [5961]. Executive functions
such as attention, memory, decision-making, self-perception, and response monitor-
ing are fundamental to the performance of effective daily motor tasks [62].
Fig. 2.2 Auditory and

visual cueing device
The correlation between the cognitive decline and gait disorders become more
obvious with the progression of PD, leading to a significant impact on the long-term
prognosis [63].
It is worth noting that the gait and cognitive relationship is not exclusive to PD
patients, also being found in healthy elderly people (even in the early stages of
aging) who show subtle cognitive deficiencies that are not detectable by global
scales of cognitive tracking. Deficiencies of declarative memory, for example, are
associated with the loss of dopamine in the healthy elderly [64].
From this context, challenged training is proposed with the purpose of verifying
whether specific motor and cognitive skills could be concomitantly trained. Some
authors advocate the need for dual-task training [50, 65] because of the loss of
motor performance that requires shared attention with other motor [66, 67] or cog-
nitive tasks [68]. Cognitive tasks are frequently performed during gait in many daily
contexts, which justifies the facts that (1) training programs should be designed with
the purpose of improving motor and cognitive aspects of dual-task training [69], (2)
people with subtle cognitive alterations could benefit from cognitive rehabilitation
strategies that involve processes such as planning, initiation, and self-monitoring
[70], (3) patients with better cognitive skills could be highly motivated to engage in
a training program [71], yet the kind and severity of cognitive alterations could limit
the cognitive skills to compensate for gait abnormalities [72].
Therefore, it could be suggested that a complex training program with motor and
cognitive components could be more effective at improving the performance of the
dual tasks in a functional gait than a program focused exclusively on the motor
function [73]. Motor-cognitive approaches would act as a way to facilitate mecha-
nisms involved in the cognitive reserve. The model of the cognitive reserve postu-
lates the existence of specific experiences and behaviors, which confer protection
against the loss related to aging [74].
Posture, Balance andFalls
People with PD demonstrate impaired postural responses. Impairments include

hypometric force production, difficulty modifying and scaling postural responses
based on the initial context and poor use of the hip strategy [75]. Abnormal proprio-
ceptivemotor integration also contributes to impaired feet-in-place (feet are sta-
tionary, no step is performed) postural responses. People with PD tend to
over-estimate the size and strength of their movements; even though they may per-
ceive that they are moving with appropriate size and strength, they actually demon-
strate hypometric movements and do not reach far enough, walk far enough, or step
far enough toward a target when performing without visual feedback [7678].
Postural instability and falls increase the morbidity and mortality in patients with
PD [79]. Early recognition of balance impairments and falls risk contribute to a
tailored rehabilitation program, which can minimize complications [80].
Postural adjustments are adaptive responses that maintain postural control. They
can be evaluated using static and dynamic posturography, which consists of measur-
ing forces exerted against the ground. Posturography has not only experimental but
also clinical relevance, because it can quantify balance disorders, especially in indi-
viduals with PD [8184]. Static posturography assesses body sway under quiet
stance tasks. It usually quantifies the center of foot pressure displacements per-
formed on eyes open, eyes closed and dual-task conditions [83, 84]. Dynamic pos-
turography provides data on voluntary motor control, while patients perform tasks
or stand still on a platform with external perturbations. It involves latencies of pos-
tural responses and body sway mechanisms [81, 85, 86]. Studies approaching PD
balance have shown conflicting results; some found increased body sway [87, 88] or
no differences in body sway between healthy controls and patients [87]. Others
found a reduced or normal sway with a poor correlation with clinical balance tests
[89]. These conflicting results stemmed from differences in disease severity,
levodopa treatment conditions, and methods of postural instability quantification. In
dynamic assessments, most studies evaluated postural control with moving or
unstable platforms to observe the responses to external perturbations [86].
In clinical practice, balance tests are used for assessing functional mobility and
postural instability in patients with PD.The Movement Disorder Society
(MDS)-commissioned task force [90] assessed the clinimetric properties of existing

rating scales, questionnaires, and timed tests that assess posture, gait, and balance in
PD and made recommendations on their utilization and the need for modifications
or replacement. A literature review was conducted. Identified instruments were
evaluated systematically and classified as recommended, suggested, or listed.
Inclusion of rating scales was restricted to those that could be readily used in clini-
cal research and practice. The results of their findings were: one rating scale was
classified as recommended (the UPDRS-derived Postural Instability and Gait
Difficulty Score) and two as suggested (Tinetti Balance Scale, Rating Scale for
Gait Evaluation). Three scales requiring equipment (Berg Balance Scale, Mini-
BESTest, Dynamic Gait Index) also fulfilled the criteria for recommended and
two for suggested (FOG score, Gait and Balance Scale). Four questionnaires were
recommended (Freezing of Gait Questionnaire, Activities-specific Balance
Confidence Scale, Falls Efficacy Scale, Survey of Activities, and Fear of Falling in
the ElderlyModified) and four tests were classified as recommended (6-min and
10-m walk tests, Timed Up-and-Go, Functional Reach).
Bloem etal. [90], identified several questionnaires that adequately assess FOG
and balance confidence in PD and a number of useful clinical tests. However, they
found no scale suitable for all clinical purposes to assess gait, balance, and posture,
as none of the instruments adequately and separately assesses all constructs, that is,
gait (including FOG), balance, and posture. It is also unlikely that a single unidi-
mensional scale can be developed for all three constructs (gait, balance, and pos-
ture) because of the potential heterogeneity in the underlying pathophysiology.
Given that these concepts are interrelated but independent constructs, it is recom-
mended to assess them simultaneously, but to ensure that separate scores are
obtained for the constructs. An ideal future scale should therefore include separate
sections for gait, balance, and posture and should specifically address FOG and fear
of falling.
Educational status should be taken into consideration when assessing balance,
because both executive function and educational level influence balance tests in
older adults [91]. People with fewer years of formal education have more difficulty
choosing adequate motor strategies for performing tasks. Meanwhile, individuals
with higher education, because of their more efficient synaptic and neural networks,
may find better motor solutions to imposed motor difficulties. Souza etal. [92]
evaluated executive function and functional balance (assessed by the Berg Balance
Scale [BBS]) in PD patients (HY score between 2 and 3) and healthy elderly people.
Each group of participants was divided by educational status: low (410 years of
education) or high (11years or more). The participants with PD and a high educa-
tional status performed better on the BBS than did those with PD and low educa-
tional status.
The PT program should involve muscle resistance training for quadriceps, ham-
strings, and foot extensors to improve posture, muscle stiffness in addition to gait
and balance parameters [93, 94]. In PD, there is an imbalance between agonist mus-
cles that facilitate opening movements (e.g., extensors, supinator muscles, external
rotators, scapula, and pelvic abductors) and antagonist muscles that facilitate
closing movements (flexors, pronators, internal rotators, and adductors), as shown

by the difficulties encountered in performing quick, alternating movements in pro-
nationsupination or flexionextension [95]. PT programs must also include pas-
sive stretching of antagonist muscles and strengthening of agonist muscles [95].
Some exercises for active mobilization in axial rotation should be implemented to
fight stiffness, which affects the trunk. Tai Chi exercises can also help to reduce bal-
ance disorders [78].
Transfers
As the disease progresses, complex motor sequences, such as transfers, may no

longer be performed automatically [42]. Transfers that are particularly problematic
include rising from, and sitting down onto a chair, getting in or out of bed, and turn-
ing over in bed [96]. A common problem during sit-to-stand transfers is that PD
patients fail to lean forward far enough when standing up, thus falling back into the
chair [41]. Cognitive cues would act as a potential facilitator of transfers. Motor
strategies are designed to keep the gestures simple and easy, such as performing
varied and repeated exercises dedicated to a precise daily activity to optimize train-
ing and facilitate transfers in the patients daily life. Cued training could improve
motor control during daily activities, such as the sit-to-stand task and rising from the
bed in people with PD (Figs.2.3 and 2.4). For example, sit-to-stand can be divided
into four phases: open legs, move forward, move upward, and stand up.
Fig. 2.3 Rising from the chair

Fig. 2.4 Getting out of the bed
Manual Activities
Manual activities may become difficult to perform because of the complex motor
sequences required. The coordination, efficiency, and speed of reach and dexterity
of movements are often diminished; therefore, therapies may be directed at
addressing loss of mobility, difficulties in reaching, grasping, and manipulating
objects. and self-care activities such as eating and dressing. Nonstandardized
techniques, commonly observational analysis or nonstandardized timed tasks,
were most often used to assess impairments and activity limitations. There are
limited formal clinical guidelines for treating and evaluating impairment of man-
ual activities in PD patients.
Exercise
Studies on physical exercises with PD animal models have shown many plastic
processes involved with neuroprotection mechanisms, such as angiogenesis
improvement [97], increased anti-inflammatory responses [98], decreased inflam-
matory responses [99], and improvement of mitochondrial functions [100]. The
neuroprotective effect of exercises in PD was also reported in rats trained on a tread-
mill [99101].
It is possible that the main factors related to the neuroprotective effect of the
physical exercise are neurotrophic factors such as the brain-derived neurotrophic
factor (BDNF). These factors are essential to cellular differentiation, neuronal sur-
vival, migration, dendritic arborization, synaptogenesis, and synaptic plasticity
[102]. BDNF expression is decreased in PD animal models [99101] and in PD
postmortem brains [103]. On the other hand, physical exercise is able to recover
BDNF levels both in animal models [99101, 104] and in patients with PD [105].
According to Petzinger etal. [106], exercise is beneficial for PD rehabilitation
because it incorporates many aspects of practice important for goal-directed motor
skill learning. These elements include repetition, intensity, and challenge, which
together with skill training lead to improvement in motor performance.
Although there is a wide spectrum of exercise modalities, most of the studies

share common elements, including goal-based practice for the acquisition of a skill,
and reinforcement (learning through feedback). The feedback in turn serves to chal-
lenge patients beyond self-selected levels of perceived capability, maintaining moti-
vation, and facilitating the engagement of individuals to become cognitively aware
of movements that were previously automatic and unconscious [106].
Aerobic training is encouraged and all patients should exercise in their best medi-
cated state. Shu etal. [107] conducted a meta-analysis study to evaluate the effective-
ness of aerobic exercise for PD and suggested that aerobic exercise (including treadmill
training, dancing, walking, and Tai Chi) might significantly improve motor action, bal-
ance, and gait, including gait velocity, stride/step length, and walking ability.
In relation to resistance training, a recent systematic review suggested that resis-
tance training might have a positive effect on both muscle strength outcomes and
functional outcomes. Resistance training was shown to increase fat-free mass, mus-
cle strength, and improve mobility and performance in PD patients [108].
Most of the research target the motor symptoms of PD, but Reynolds etal. [109]
reviewed the literature searching for the efficacy of aerobic and strengthening exer-
cise interventions relative to mood, cognition, and sleep. The author concluded that
aerobic and strengthening exercises offer especially promising treatment strategies
for alleviating nonmotor symptoms of PD.
Despite a large number of studies demonstrating that exercise improves motor
performance in PD, there is no consensus on which frequency and duration of treat-
ment, number of repetitions, and difficulty/complexity of exercises should be
endorsed [45]. Most of the studies adopt a global treatment program of 68h dis-
tributed over 612 weeks, with 11.5h of training per week. It has been suggested
that intensive, specific exercise might improve rehabilitation outcomes for PD
patients. To be considered an intensive program the exercise should be practiced
23h/week for 614 weeks, totaling 1242h of treatment [110].
Based on the guideline of the American College of Sports Medicine (ACSM) van
der Kolk and King [43] suggest the following exercises for PD: the program should
include aerobic, strengthening, flexibility, and balance training. Aerobic training
should be done 5 days/week for 30min of moderate intensity or 3 days/week for
20min at vigorous intensity. Strengthening should be performed 2 days/week, 810
exercises involving major muscle groups and 2 sets of 1015 repetitions. Flexibility
exercises should be done for 10min each time. Balance training should be intro-
duced for those who are at risk for falls. However, many PD patients present pos-
tural instability precociously; thus, balance exercise should be applied in accordance
with patients needs.
Other Interventions
Dance
Similarly, dance is receiving attention as an interesting exercise strategy for PD
because it naturally combines cueing, spatial awareness, balance, strength and
flexibility, and physical activity (or even aerobic exercise if sufficiently intense).
Dance can serve as an adjunct to traditional treatments to improve gait, balance, and
QoL in people with PD [111]. Tango dance, specifically, has been shown in several
studies to improve a multitude of motor and nonmotor features in people with PD
[112114], but other types of dance have been evaluated as well. A Cochrane review
[115] included two dance studies in a large review of the effectiveness of PT inter-
ventions compared with no intervention in patients with PD.Their results suggested
that dance might improve UPDRS motor scores (8.48, CI 12.76 to 4.19), FOG
(2.21, CI 4.63 to 0.22), and the 6-min walk test (6MWT; 38.94, 3.18 to 81.06)
compared with no intervention. Through meta-analysis they indirectly compared
dance randomized clinical trials (RCTs) with other PT intervention RCTs and con-
cluded that there were no differences in the effectiveness of the PT interventions.
he Use ofVirtual Reality asaStrategy forPhysical Therapy inPD

T
Virtual reality (VR) is defined as a computerized simulation that allows users to
interact with images and virtual objects that appear in the virtual environment in
real time through multiple sensory modalities [116].
The application of VR to rehabilitation is based on the interaction of the person
within a virtual environment, with the aim of promoting motor learning through
enhanced perceptions (visual, auditory, and haptic inputs). In addition, such tech-
nology can be incorporated into games consoles offering a low-cost, user-friendly,
and home-applicable device to promote physical activity.
Although the studies have small samples of patients and lack standardization of
tools, systems, and methods, VR has shown promising results and its application in
the rehabilitation of PD is growing. Investigation into how this instrument may opti-
mally be adjusted to the specific needs of PD patients is required [117, 118].
Virtual reality training has many advantages compared with standard physical
rehabilitation interventions. It offers augmented feedback about performance,
enables individualized practice, and stimulates both motor and cognitive functions
simultaneously. Nonetheless, there are many challenging issues to be overcome. It
is mandatory to better define suitable patients and establish the minimum cognitive
and motor function for VR intervention, design better well-powered clinical trials,
develop good assessment tools to measure the outcomes, and carry out long-term
studies to measure learning and retention (Table2.1).
Future Directions
Physical therapy has been indicated as adjuvant to pharmacological and surgical
treatments in PD.It should be recommended as early as possible to maximize func-
tional abilities, to improve QoL, and to minimize secondary complications.
However, past meta-analysis studies showed insufficient evidence to support or
refute the efficacy of PT.In the last decade, both the number and quality of RCTs
have increased substantially and different interventions, such as exercise, are now
accepted and regarded as basic elements of any rehabilitation program. Many ques-
tions remain unanswered, but large and well-designed ongoing trials are promising
to increase the current levels of evidence that support the use of PT strategies, e.g.,
to prevent falls or to improve physical capacity in PD patients.
Table 2.1 Virtual reality in Parkinsons disease (PD)

Intervention or
Reference assessment Aim of the intervention
Souza etal. [55] Intervention Combined visual and auditory cues on walking
after deep brain stimulation
Yang etal. [186] Intervention To improve gait, balance, posture, and freezing
Cipresso etal. [187] Assessment Virtual multiple errands test (VMET) to
evaluate executive function
Su etal. [188] Assessment Postural instability
Shine etal. [189] Assessment Freezing of gait
Griffin etal. [190] Intervention Use of virtual visual cues on walking
Mirelman etal. [118] Intervention Motorcognitive training and obstacle
negotiation
Yen etal. [191] Intervention Training balance in a single- or dual-task
condition
Albani etal. [192] Intervention To improve executive function with virtual
reality
Davidsdottir etal. Assessment Visual processing during gait
[193]
Albani etal. [194] Intervention To improve daily activities in the virtual reality
home environment
Speech Therapy inParkinsons Disease
Introduction
Motor and nonmotor deficits affect the abilities of communication and swallowing
and can have a devastating impact on the QoL of patients with PD.
These impairments pose management challenges to physicians and speech thera-
pists. Rehabilitation plans should take an interdisciplinary approach and combine
dopaminergic and nondopaminergic drug therapies with nonpharmacological inter-
ventions to manage patients.
Languagespeech therapy, including targeted training with systematic, repeated,
and controlled actions, can help to overcome the neurochemical loss and reduce
specific symptoms of the disease.
Organic Neurological Dysphonia
The voice is affected earlier than other subsystems of verbal communication and
impairments can be identified before the diagnosis of PD.Around 7080% of indi-
viduals with PD have dysphonia [119]. Changes in voice characteristics vary as they
may have variable degrees of magnitude.
Dysphonia is analyzed by auditoryperceptual evaluation, automatic computer-

ized acoustic (spectral and cepstral modeling, sound pressure level, fundamental
frequency, jitter, shimmer, amplitude perturbation quotient, pitch perturbation quo-
tient, noise content measures, prosodic features, nonlinear behavior, stability, peri-
odicity features), laryngostroboscopic, aerodynamics, and subjective self-rating
questionnaire, which can add additional information necessary for biological and
physiological data associated with voice disorders.
Surgical and pharmacological treatments that have a significant impact on motor
symptoms have shown limited effectiveness on communication skills for most PD
patients [120].
Speechlanguage therapy rehabilitation is aimed at recovering the voice through
exercises, techniques, and methods. The Lee Silverman Voice Treatment (LSVT or
LSVT LOUD) improves vocal intensity and phonation [121, 122].
Hypokinetic Dysarthria
Dysarthria is seen in as many as 90% of individuals with PD [123]. These patients

experience changes in speech and voice and when verbal communication skills
deteriorate, speech becomes unintelligible. This manifestation is caused by muscle
control and sensory integration dysfunction and can affect respiration, phonation,
resonance, articulation, and prosody.
Voice disorders tend to increase as the disease progresses, whereas speech disor-
ders are associated with advanced stages of PD [124], bradykinesia, and axial motor
deficits [125]. The assessments of dysarthria and dysphonia are similar and it is
essential to evaluate the patient with PD to differentiate the type of the deficits.
Drug and neurosurgical treatment are insufficient and have variable results for
dysarthria in PD [126]. The specific effects of DBS and repetitive transcranial mag-
netic stimulation and related mechanisms remain unknown.
When initiated, the speechlanguage therapy rehabilitation program consists of
an integrated approach, including guidance, psychodynamic interventions, and
training.
The multiple barriers of access to this intensive treatment faced by patients with
PD include their own physical limitations, long distances to the treatment center,
lack of transportation services, and requiring a travel companion to get to the reha-
bilitation center [127]. To overcome these barriers, the LSVT was tested for remote
delivery. The results were encouraging, and the improvements obtained were simi-
lar to those with on-site rehabilitation [128].
Telerehabilitation should be weighed up carefully. Factors such as aging, digital
inclusion, and lifestyle in addition to cultural, social, and economic characteristics,
need to be taken into account, as patients may refuse this form of treatment [129].
The clinical practice guidelines for synchronous telerehabilitation require users to
comply with standards of storage, handling, and transmission of data to ensure
patient protection, privacy, and confidentiality (Table2.2).
Table 2.2 Aspects of dysphonia and dysarthria
2 Parkinsons Disease
Features Changes Signs Impact Treatment

Voice quality Breathiness, Irregular vibration of vocal folds; Noise phonation, Lee Silverman Voice Treatment, pitch
tremor, harshness transglottic air escape noise not breathy voice limiting voice treatment (PLVT)
set to sound phonation
Voice intensity Hypophonia Vocal fold bowing, incomplete Reduced loudness Lee Silverman Voice Treatment
vocal fold closure
Monopitch Dysprosody Rigidity of vocal folds Monotone speech Lee Silverman Voice Treatment, PLVT
Monoloudness Dysprosody Rigidity of vocal folds Monotone speech Lee Silverman Voice Treatment, PLVT
Articulation Imprecision of Akinesia, bradykinesia, rigidity Impaired speech Lee Silverman Voice Treatment,
pronunciation intelligibility articulatory training
Reduced speed Slow speech Bradykinesia Monotone speech Metronome, delayed auditory
feedback, medication
Increased speed Rapid speech Rigidity Impaired speech Metronome, delayed auditory
intelligibility feedback, medication
Palilalia Dysfluency Bradykinesia, tremor Interruptions, Medication
pauses, hesitations,
repetitions
25
Studies have shown that the LSVT produces functional benefits in various sub-
systems of verbal communication, such as voice quality, prosody, articulation, and
speech intelligibility, and it is thus a useful therapeutic option [130]. The levels of
evidence of treatment for PD with LSVT are as follows: European Federation of
Neurological Societies and Movement Disorder Society (EFNS/MDS): class B
level II [131]; National Institute for Health and Clinical Excellence (NICE): class
Blevel II [132]; Guidelines for SpeechLanguage Therapy in Parkinsons Disease
(Concept Translation Parkinsonnet): class Alevel I [133].
Language Dysfunction
It is estimated that 5060% of PD patients experience impaired language under-

standing and expression (cognitive-linguistic disturbances). These manifestations
are related to language processing, cognitive or neuropsychological deficits and
cognitive-neuropsychological impairments.
Therefore, effects of bradyphrenia, deficits in verbal working memory, prob-
lems with set-shifting, poor attention and distractibility, dual-task processing
factors, executive dysfunction, among others, are associated with language dif-
ficulties [134].
Although voice and speech changes have been widely investigated and rehabili-
tation approaches are recognized and extensively studied, so far there is no specific
treatment designed for language improvement in PD.Systematic studies are neces-
sary to better understand and manage language disorders in PD.This is a wide-open
area of investigation.
Other Verbal andNonverbal Communication Disorders
Parkinsons disease also involves nonverbal language impairment. This manifesta-

tion is associated with dysphonia or dysarthria and further undermines communica-
tion in social, professional, and family environments.
Written communication is greatly affected by dysgraphia, which is characterized
by micrography, and prevents partial or total reading of the written content pro-
duced. In this sense, writing can be optimized by typing the content using a com-
puter, smartphone or tablet or any other similar device. However, motor deficits in
hands and fingers hinder these tasks.
Conversation involves a variety of non-verbal messages such as body postures
and movements, arm and hand gestures, smiles, glances, and facial expressions to
signal the individuals intention to start a conversation and take his or her turn.
Facial expressions help to convey the intent of the speech. Hypomimia is a
common feature in PD that makes it difficult for listeners to understand patients
with PD and to perceive their general and affective states [135, 136]. The LSVT
may also help to improve these patients facial expressions and communication
(Table2.3).
Table 2.3 Other aspects of communication

Dysgraphia Micrography Bradykinesia, Handwriting Manual training,
akinesia, rigidity impairment medication
Hypomimia Masked facies Bradykinesia, Inefficient facial LSVT,
akinesia, rigidity expression medication
Oropharyngeal Dysphagia
Dysphagia is very common in PD.It affects up to 80% of individuals in the early

stages and as many as 95% in the advanced stages of the disease because of motor
and nonmotor deficits [137]. Difficulty swallowing is most frequently associated
with the oral and pharyngeal phases, resulting in inefficient bolus formation, delayed
swallowing reflex, slowed pharyngeal transit time, and repetitive swallowing to
push food toward the esophagus and clear the glottic region [138].
Treatment standards of dysphagia in patients with PD were elaborate according
to the stages of swallowing: (1) oral (voluntary): repetitive pump movements of the
tongue, oral residue, premature spillage, piecemeal deglutition; (2) pharyngeal
(involuntary): residue in valleculae, pyriform sinuses, aspiration, somatosensory
deficits, reduced rate of spontaneous swallows; (3) esophageal (involuntary): hypo-
motility, spasms, and multiple contractions [139].
Clinical observation has revealed that patients with PD also have difficulty in
other phases of swallowing. During the anticipatory phase, patients lose the ability
to choose the right foods, control the amount of food and set the pace of eating.
Many patients tend to choose inadequately dry or hard solid foods and quickly put
an excessive amount of food into their mouth. During the oral preparatory phase,
they have difficulty holding cups and using cutlery to bring food to their mouth and/
or lack the strength to close their lips and teeth and hold food inside their mouth.
Dysphagia can produce two different sets of complications, with an impact on
the overall health of patients: (a) malnutrition and/or dehydration due to reduced
effectiveness of swallowing; and (b) choking and tracheobronchial aspiration caused
by impaired safety of swallowing, which result in respiratory infections and aspira-
tion pneumonia.
Fiber-optic endoscopic evaluation of swallowing and videofluoroscopy swallow-
ing studies are considered the gold standard for evaluation of oropharyngeal dys-
phagia [140], but should be combined with rigorous speech therapy analysis to
guide the management of rehabilitation.
Dysphagia may be treated by rehabilitation, surgical or pharmacological meth-
ods or with other approaches (dental implants, overdentures, percutaneous injection
of botulinum toxin).
Surgery is rarely indicated for patients with swallowing disorders, although in
patients with severe disorders, bypassing the oral cavity and pharynx in their entirety
and providing enteral nutrition may be necessary. Options include percutaneous
endoscopic gastrostomy and intermittent oro-esophageal catheterization [141].
Some studies have demonstrated that DBS did not show clinically significant
improvement or decline in swallowing. Evidence shows that subthalamic nucleus
(STN) stimulation appears to cause more impairment than globus pallidus internus
(GPi) stimulation [142].
As for drug treatment, although few studies have shown improved swallowing
after ingestion of levodopa, several studies have reported improved dysphagia with
dopaminergic treatment in only a small proportion of patients. In these cases, behav-
ioral therapy should be considered [143].
Speechlanguage therapy rehabilitation is key for improving dysphagia and
includes both compensatory strategies and rehabilitation techniques [144]. The com-
pensatory intervention is produced by chin-tuck, bolus consistency, effortful swallow
frequency, and bolus effects. Rehabilitation consists of tongue-strengthening, tongue
control, tongue holder, Shaker technique, and vocal exercises.
Learned compensatory maneuvers as part of the behavioral intervention for dys-
phagia including changing the diet, the way food is eaten, head posture, and adjust-
ing the swallowing mechanism.
Changes in diet aim to create different sensory stimulation, for example, by
changing volume, texture, and consistency of the food. Changes in head posture such
as rotating or tilting it backward or forward can help move and increase the flow of
the bolus. As for the swallowing mechanism, it can be improved with several maneu-
vers, including the Shaker maneuver, supraglottic swallow, super supraglottic swal-
low, the Masako maneuver, and the Mendelsohn maneuver to adjust muscle strength,
range of motion, and coordination between swallowing and breathing
Sialorrhea
As there are no established diagnostic criteria for sialorrhea, prevalence estimates of

drooling and sialorrhea in patients with PD vary from 10 to 84% [145]. These mani-
festations are more common during the off periods, probably because of increased
production or insufficient clearance of saliva [146].
Oropharyngeal dysphagia and lack of upper esophageal motility are the main
factors contributing to drooling and sialorrhea [147]. Hypomimia, unintentional
opening of the mouth, and bent posture of the head may be secondary causes [148].
The evaluation of drooling in PD includes objective measures (volume and sali-
vary flow) and subjective (Unified Parkinsons Disease Rating Scale part II,
Drooling Severity and Frequency Scale, Drooling Rating Scale, and Sialorrhea
Clinical Scale for PD). The Movement Disorders Society recommends the use of
all subjective measures.
Treatment should begin by discontinuing, if possible, all medications that exac-
erbate drooling and sialorrhea, such as cholinesterase inhibitors, clozapine or que-
tiapine. The goal is to improve motor deficit symptoms using dopaminergic
medications or DBS.However, response to treatment is usually partial and requires
specific adjuvant therapy. Pharmacological and nonpharmacological treatments are
recommended. Anticholinergics, adrenergic receptor antagonists, and botulinum
neurotoxin of serotypes A and B, have been utilized.
Table 2.4 Dysphagia, drooling and sialorrhea

Dysphagia Coughing, Bradykinesia, rigidity, Aspiration, LSVT,
gagging, akinesia, incomplete pneumonia, swallowing
difficulty cricopharyngeal malnutrition, training,
swallowing relaxation, reduced death medication
foods and cricopharyngeal
drugs opening, delayed
initiation of the
swallowing reflex
Drooling and Impairment in Lingual bradykinesia, Pneumonia Swallowing
sialorrhea speech and dysphagia, changes in aspiration training,
feeding, saliva upper esophageal saliva, perioral medication
escape through motility, hypomimia, dermatitis, bad
the mouth head posture breath
Speechlanguage therapy rehabilitation may improve patients ability to retain

saliva within the mouth, but further studies are needed to investigate its effective-
ness (Table2.4).
Future Directions
Communication and swallowing disorders affect most patients with PD and have an
adverse impact on their functioning. Because evidence shows that patients with
these presentations respond inconsistently and weakly to pharmacological or neuro-
surgical treatment alone, languagespeech rehabilitation should be recommended,
as studies suggest significant improvement of these functions after therapy.
So far, there is /little evidence supporting the effectiveness of currently used
interventions and they need further validation. Future studies involving other treat-
ment research areas may help to clarify the neural basis of communication and
swallowing disorders in PD and drive the development and improvement of treat-
ment approaches. Furthermore, progress in rehabilitation is achieved with national
and international collaborative work and sharing of research data.
ccupational Therapy Intervention inPatients

O
withParkinsons Disease
Introduction
The progress of PD leads to loss of the abilities to perform ADLs and subsequently
poor functional status and worse QoL.The impairments become gradually evident,
making it essential for the patient and the caregiver to be oriented and trained to avoid
any secondary damage [149]. During the course of the disease, the patient with PD
requires the help of allied health professionals, such as the occupational therapist.
Occupational therapy (OT) intervention can be conducted at the patients home

or in the rehabilitation center (as an outpatient). There is no consensus on which
place is more effective for the rehabilitation process [150, 151]. However, it is
agreed that the therapist should target the activities and exercises that are significant
for the patient. The family/caregiver must understand the patients deficits and goals
so that they may motivate the patients to practice the occupational therapists exer-
cises at home and improve their QoL.
Patients may take a long time to perform ADLs, not only because of the motor
impairment (such a, freezing, tremor, and bradykinesia), but also because of the
cognitive deficits. These deficits may also interfere with the performance of more
complex tasks, such as paying the bills and taking medication [152]. For this reason,
OT interventions should be tailored to address the multiple physical and psychoso-
cial difficulties that PD patients may face. Simplifying the activity or breaking down
complex tasks into simple steps may be necessary in some cases. Moreover, patients
may require some tips/cues, assistance or supervision to complete ADLs [153].
Each patient requires different strategies of intervention, for motor impairments,
such as balance, freezing, and coordination. A more accessible environment can be
created to avoid falls and secondary consequences (e.g., fractures) [152]. At home,
adaptations (such as bars, ramps, raised toilet seats, and stair lifts) should be evalu-
ated by the therapist and the adjustments recommended to the patients. Sometimes,
only the simplest orientations (such as removing mats and furniture) can be helpful
in avoiding falls. Safety and awareness of the deficits are essential for the patients to
improve functional status and QoL.
As discussed, patients with PD have multiple aspects to be considered and evalu-
ated at the initial assessment and during different phases of the disease. All the dif-
ficulties and abilities of the patients with PD have to be considered to provide an
adequate rehabilitation program. It is also important that frequent reassessments are
made to change the treatment goals accordingly [154].
Although there is a lack of studies measuring OT intervention in PD, and conse-
quently evidence of its effectiveness in the rehabilitation process is limited [149,
150, 155157], meta-analysis studies have been performed with the aim of drawing
out more data about OT assessment and treatment [153, 158, 159]. Most of the stud-
ies approach the following aspects that should be emphasized when evaluating
patients with PD: (1) motor aspects, (2) cognitive deficits, (3) ADLs and Instrumental
Activities of Daily Living (IADL), (4) home environment, and (5) family/caregiver
support. In the following section these topics are addressed.
Motor Aspects
The majority of patients with PD are sedentary and during the course of the disease,
they will experience loss of motor function and balance and may have trouble initi-
ating a motor action, such as walking and transfers (e.g., bed to chair). Exercises
and activities to promote stretching, strengthening, and balance are important to
retard the decaying of these functions [154]. Physical activities are also important
for the patients QoL and improvement of functional status [160], which in turn
prevents comorbidities and avoids hospitalization [161, 162].
At the initial assessment, upper limb function should be evaluated. Proud etal.
[163] investigated the frequency of physiotherapy and OT assessment of the upper
limb in people with PD.The results showed that only 54% of respondents regularly
assessed upper limb function. Therefore, effort should be made to increase clini-
cians knowledge of appropriate outcome measures for quantifying upper limb
impairments and activity limitations that may be addressed in this population [164].
Practice and training different postures to perform the daily routine tasks are
recommended, such as a sitting position for showering/bathing or putting clothes in
the on/off period. Assistive technology and utensils such as: eating and drinking
tools, dressing tools, computer aids, cooking tools, and bathroom aids, among oth-
ers, may help the patient with PD to be more independent [165].
There are few studies addressing splinting for patients with PD; however, its
benefits for other neurological diseases are well known [166]. The splints can be
used to prevent the stress of ligament, muscle, joint or correct deformity [166]. PD
patients may experience stiffness of the hand, pain and loss of range of movement
with the progression of the disease, but there is no specific splinting for each patient.
The occupational therapist should evaluate the motor aspects and discuss the goals
with the patient and family/caregiver, before recommending a splint.
During the progress of the PD, patients lose the walking ability for a short or long
distance due to imbalance, rigidity, and freezing. These impairments can provoke
falls and fatigue. For this reason, the occupational therapist should evaluate the
patients needs and discuss the prescription of a wheelchair and shower chair [167].
Patient and family may have concerns about using a wheelchair, but it is important
to explain all the reasons for its indication, especially to prevent secondary prob-
lems caused by falls.
Cognitive Aspects
Mild cognitive impairment and dementia can develop during the progression of PD
in approximately 30% of the patients [168170]. The most common cognitive
impairments are memory, attention, visuospatial, and executive function [156, 168].
The Movement Disorders Society Parkinson Study Group Cognitive/Psychiatric
Working Group recommends Montreal Cognitive Assessment [171] as a minimum
cognitive screening measure in clinical trials of PD where cognitive performance is
not the primary outcome [172]. Mini Mental State Examination [173] is another
useful screening instrument for assessment of cognitive impairment in PD [174].
Patients may require some tips/cues or supervision to perform ADLs, such as
remembering the timing of medications, appointments or even more complex tasks
(paying the bills and simple meal preparation). People with PD may experience dif-
ficulties in performing dual tasks (e.g., walking and carrying a cup or walking and
looking for a product on the supermarket shelf), owing to the motor aspects, but also
because of divided attention [154, 175, 176].
ctivities ofDaily Living andInstrumental Activities

A
ofDaily Living
Activities of daily living are difficult for people with PD; there are many causes,
including fatigue, slowness, fear/risk of falling, depression, and effects of medica-
tion [154, 177]. It is important to stimulate the patients to perform daily tasks and to
maintain their own autonomy and independence.
Encouragement to have some leisure activities (social and cultural activities) is
essential, not only for meeting friends and family, but also for having some time off
from the weekly routine. Although there are few studies about the benefits of leisure
and social activities for patients with PD, studies indicate that older people who
participate in these activities present reduced cognitive decline [156, 178].
Patients should participate not only in their familys events, but also in religious
groups, friends groups, clubs, and volunteer work [178]. The therapist should also
recommend that the patients participate in support groups for PD, outdoor activities
(cinema, theater, and park), and practice arm/hand motor skills. Group activities are
beneficial for patients to discuss experiences, difficulties, and abilities, and to cope
with the disease [70, 179].
The suggested questionnaires for evaluating the ADLs and IADL in patients with
Parkinsons are: the Canadian Occupational Performance Measure [180] and the
Parkinson Self-Assessment Tool [181].
Home Environment
During the rehabilitation process it is important to evaluate the patients home and
work place to make it accessible, comfortable, safe, and functional. It is essential to
discuss with the patient and family their needs for an adequate housing and environ-
mental adaptation [151, 182].
Family/Caregiver Support
Family/caregivers should understand the patients potential and limitations and

the treatment process. Dependence and incapacity cause emotional problems for
patients and consequently affect the family/caregiver, who should be encouraged
to participate in a family support group. Studies demonstrate that QoL in patients
with PD and their caregiving spouses is decreased. Multidisciplinary interven-
tions aimed at improving PD patients QoL may have more effective outcomes if
education about coping skills targeted not only patients, but also family/caregiv-
ers [183185]. The family/caregivers burdens increase as the patients limita-
tions increase and there is a need for good wellbeing. It is important to take into
consideration their issues of concern in relation to the patient and the disease
(Table2.5).
Table 2.5 Occupational therapy interventions in PD
Intervention Suggested activities Local PD progression
Exercises to Exercises to practice the movements and functions of the upper Clinic and home During the progression of
improve motor limb, such as reaching, gripping, grasping and manipulating the PD, activities should
activities objects change according the
patients needs
2 Parkinsons Disease
Cognitive activities Virtual games, attention games, outdoor activities, group Clinic As soon as the patient
activities, board games, tablet games presents cognitive
impairments
Practice and Different posture to dress and bath The best place for this As soon as the patient
orientation for the Practice of transferences (bedchair; chairwheelchair) intervention is in the patients presents first symptoms
ADL and IADL Practice of housekeeping and cooking environment; however, it can with an impact on their
Outdoor activities, such as grocery, bank and cultural activities be done at the clinic functional status
Adaptation and devices to facilitate the daily activities
Assessment of When patient presents the initial symptom of PD, the OT should Home and Workstation At the initial assessment
home environment investigate the patients environment and according to the
Recommendations for avoiding falls should be addressed progression of the disease
Equipment (e.g., raised toilet seat and bars) and refurbishment
(e.g., ramp, lift or even more spacious bedroom and bathroom)
Simple adaptations, such as: removal of mats; moving the
patients bedroom to the living room; removal of the door frame,
installation of bars, and use of a chair to have a shower (or even a
strip wash)
Family and Posture to assist the patient and avoid pain Clinic or at home During the progression of
caregiver support Organize the patients and caregivers routine the disease
Family support groups
Time to relax and run errands
Caregiver support group to share experiences
All the activities and exercises should be practiced (at least for the first time) with the OT, but the caregiver should also practice with the patient at home to
improve the functional status
33
Future Directions
People with PD require professional health care during the whole course of the
disease; however, there is a lack of evidence for the effectiveness of OT interven-
tion. A few of the reasons: there are not enough randomized clinical trials, not
enough financial support to conduct large trials, and insufficient health profession-
als specialized in PD to conduct research. More multicenter clinical trials to evalu-
ate all the aspects that involve OT interventions in patients with PD should be
encouraged in the future.
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Atypical Parkinsonism
3
OrlandoGrazianiPovoasBarsottini,
CarolinadeOliveiraSouza, GiovanaDiaferia,
andAlbertoJ.Espay
Introduction
Approximately 1525% of patients initially diagnosed with Parkinsons disease (PD)

may in fact have an alternative underlying pathological condition such as an atypical
form of parkinsonism (ADP; previously referred to as Parkinson-plus syndrome).
These patients may present with symptoms and signs uncommon for PD and their
response to high doses of levodopa is poor [1, 2]. ATPs include progressive supranuclear
palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and
dementia with Lewy bodies (DLB). Currently, this group also includes rare familial
APDs associated with mutations in the microtubule-associated protein tau (MAPT) and
progranulin (PRGN) genes, chromosome 9 open reading frame 72 (C9ORF72),
chromatin modifying protein 2B (CHMP2B), and transactive DNA-binding protein
(TARDBP) [3]. However, these rare forms of APD will not be dealt with in this chapter.
Only the more common PSP, MSA, and CBD will be addressed here. Please note that,
lacking reliable biomarkers, the definitive diagnosis of these disorders can only be made
on pathological examination of the brain of affected patients [1, 2].
O.G.P. Barsottini, M.D., Ph.D. (*)

Department of Neurology, Universidade Federal de So Paulo, So Paulo, Brazil
C. deOliveiraSouza, P.T., M.Sc.
G. Diaferia, S.L.P., M.Sc.
A.J. Espay, M.D., M.Sc.
Department of Neurology, University of Cincinnati, Cincinnati, OH 45267, USA

DOI10.1007/978-3-319-46062-8_3
46 O.G.P. Barsottini et al.
Multiple System Atrophy
Multiple system atrophy is a sporadic neurodegenerative disease characterized by

the association of parkinsonism, cerebellar, pyramidal, and autonomic symptoms
[2]. The estimated annual prevalence of MSA is 0.6 per 100,000 people per year,
reaching 3 per 100,000in people aged over 50 years [4, 5]. The mean survival rate is
around 67 years. Nearly 20 years after the introduction of the term MSA, abundant
glial cytoplasmic inclusions containing alpha-synuclein have been described as
disease markers. Because of similar protein aggregation in PD and DLB, MSA is
classified within the group of neurological disorders termed synucleinopathies [6].
The diagnostic criteria for MSA were first formulated in 1999 and a specific
evaluation scale was developed in 2004 (the Unified Multiple System Atrophy
Rating Scale [UMSARS]) [7]. SNCA gene encodes for alpha-synuclein protein and
SNCA variants may be risk factors for developing MSA [8]. Recently, heterozygous
variants of the coenzyme Q2 4-hydroxybenzoate polyprenyltransferase (COQ2)
gene were identified as being a cause of familial MSA in Japan [9].
Multiple system atrophy with predominantly parkinsonian features (previous
nomenclature, striatonigral degeneration) is referred to as MSA-P, and with
predominantly cerebellar symptoms (olivopontocerebellar atrophy) as MSA-C [1, 2].
There is a predominance of autonomic symptoms (previous eponym, Shy-Drager
syndrome) in most cases early on or with disease progression. Patients may initially
respond to levodopa, but similar to other forms of APD, the response generally
disappears with disease progression. Dysautonomia is mainly characterized by
erectile dysfunction in men, urinary incontinence or retention in women, postural
hypotension, constipation, and excessive sweating [1, 2, 6]. Rapid eye movement
(REM) sleep behavior disorder is very common in MSA and may predate its onset
as it does in PD.Dysarthria and, to a lesser extent, dysphagia, typically appear
within the first year of the disease, and, in the presence of cold blue hands and
anterocollis, they make the diagnosis more likely. Early overt cognitive dysfunction
similar to that seen in other forms of APD is unusual, but neuropsychological
assessments may reveal subclinical deficits in executive functions [1, 2, 6].
Patients with MSA may develop levodopa-induced dyskinesia soon after initia-
tion of treatment. It is interesting to note that these dyskinesias typically involve the
face and neck, but are rarely widespread [6].
Multiple system atrophy is pathologically characterized by neuronal loss and
gliosis in the putamen, caudate nucleus, globus pallidus, substantia nigra, inferior
olives, pontine nuclei, Purkinje cells, autonomic brainstem nuclei, intermediolateral
cell columns of the spinal cord, and Onufs nucleus. Although cytoplasmic inclu-
sions may aggregate within neurons, they are characteristic in oligodendrocytes,
leading to the suggestion that MSA might be considered a primary oligodendrogli-
opathy from a pathological standpoint [2, 8].
Brain MRI studies of patients with MSA-P reveal marked putaminal atrophy
whereas patients with MSA-C show cerebellar, superior cerebellar peduncle, and
pontine atropy, with a hot cross bun sign and increased signal abnormalities in
the middle cerebellar penduncles (Fig.3.1) [10]. Abnormal anal and urethral
3 Atypical Parkinsonism 47
Fig. 3.1 Brain MRI with

the hot cross bun sign in a
patient with multiple system
atrophy (cerebellar type)
sphincter electromyography may be due to degenerative changes in Onufs nucleus

of the spinal cord [6]. Cardiac scintigraphy with metaiodobenzylguanidine
(MIBG) can be a useful cardiac autonomic marker for differentiating MSA from
PD because it is abnormal in patients with PD.Studies of sleep disorders such as
polysomnography can reveal REM behavior disorder, laryngeal stridor, sleep
apnea, and excessive snoring, some of which may precede the onset of the motor
features by several years. Other autonomic function studies such as the tilt table
test may detect postural hypotension even in asymptomatic patients and should be
obtained to fully document the extent of autonomic dysfunction when a diagnosis
of MSA is suspected [1, 2, 6, 7].
Levodopa may have benefits in the early stage of the disease; however, its effec-
tiveness wanes as the disease progresses [2]. Minocycline, a tetracycline with
potential neuroprotective effect, did not change the disease course after 24 and 48
weeks of treatment in a randomized double-blind study (Minocycline European
MSA Trial) [11]. Recent clinical trials (20132015) showed no benefits of treatment
with lithium, rifampicin, riluzole, and rasagiline in patients with MSA [12].
Postural hypotension can be addressed with simple practical measures including a
high-salt diet, increased fluid intake, use of thigh-high compression stockings and
head-of-bed elevation during sleep. If these measures are not sufficiently effective,
pharmacological measures include fludrocortisone (0.10.3mg daily), midodrine
(2.510mg 3 times daily), and droxidopa (100600mg 3 times daily). Urinary incon-
tinence is usually treated with oxybutynin (510mg at bedtime), although its use may
be associated with the magnification of any cognitive dysfunction. Constipation may
be alleviated using laxatives and high-fiber foods. There are positive reports on the use
of sildenafil for erectile dysfunction in patients with MSA [2, 6].
Progressive Supranuclear Palsy
Progressive supranuclear palsy, also called SteeleRichardsonOlszewski syndrome

in honor of the three pioneers who identified this nosological entity, is a distinctive
and probably underdiagnosed neurodegenerative syndrome. It is the second most
common cause of degenerative parkinsonism after PD in most series [13, 14]. The
classic PSP syndrome, also referred to as Richardson syndrome, is characterized
by a higher level (frontal) gait impairment, ophthalmoparesis (predominantly
downward gaze palsy without correction with oculocephalic maneuvers
[supranuclear vertical gaze palsy]), frontal cognitive dysfunction, and (often
tremorless) symmetrical, axial-predominant, posturally impaired parkinsonism
with falls occurring within a year of symptom onset [2]. Retrocollis and apraxia of
eyelid opening are focal/segmental dystonic manifestations that may be documented
in PSP. A subset of patients develops bulbar as well as pseudobulbar manifestations,
particularly pseudobulbar affect (emotional incontinence). The prevalence of PSP is
age-dependent and estimated to be 610% of the incidence of PD, or 67 cases per
100,000 people [15, 16]. PSP has a peak onset at the age of 63 years with no cases
reported under the age of 40. The clinically probable diagnosis, which is the highest
antemortem category of diagnostic certainty (definitive diagnosis can only be made
at autopsy), is usually made 3.64.9years after the onset of clinical signs [15].
There have been increasing clinical, neuroimaging, molecular pathology, and
genetic insights into PSP in recent years. It is a tauopathy characterized by deposits
of neurofibrillary tangles in the brain that are made of hyperphosphorylated
microtubule-associated protein tau. The abnormal tau protein and neuropil threads
accumulate in the subthalamic nucleus, globus pallidum, red nucleus, substantia
nigra, striatum, pontine tegmentum, oculomotor nucleus, medulla, and dentate
nucleus. Although a few familial cases with MAPT gene mutations have been
reported, this disorder remains largely sporadic. A genome-wide association study
has confirmed that the most common risk allele for PSP is the H1 haplotype of the
MAPT gene [1517].
In the adult human brain, tau protein has six isoforms formed by alternative
splicing that are derived from a single gene. Disordered regulation of exon 10
splicing may therefore explain tau aggregation into neurofibrillary tangles in PSP
and other tauopathies. The microtubule-binding domain contains either three 31
amino acid repeats (3R) or four 31 amino acid repeats (4R). In the normal adult
brain, the ratio of 3R and 4R tau isoforms is similar. In PSP, it is at least 3:1in
favor of 4R tau [2, 1517].
Similar histopathological findings can be seen in other forms of tauopathies
(e.g., Guadeloupian parkinsonism), which complicates the pathological diagnosis
of PSP. The most specific features are star-shaped astrocytic tufts and neurofibrillary
tangles that are seen under light microscopy and strongly immunostain with tau
antibodies [16, 17].
Progressive supranuclear palsy is frequently misdiagnosed as PD, and less than
half of patients with pathologically proven PSP are diagnosed correctly as having PSP
at presentation. The National Institute of Neurological Disorders and Stroke/Society
for PSP (NINDS/SPSP) criteria detect disease in only 5070% of patients in the first
3 years after disease onset [18]. These diagnostic shortcomings may at least in part be
due to the phenotypic diversity, grouped into six well-documented clinical PSP
phenotypes, recognized through neuropathological studies [15, 16]
1. Richardsons syndrome (RS): As described above, this is the classic clinical

presentation of PSP.
2. PSP parkinsonism (PSP-P): The PSP-P phenotype occurs in about one-third of
cases and is a more indolent form with a PD-like levodopa-responsive
presentation. This is the type most likely to be diagnosed as PD for the first 5
years, as falls and oculomotor abnormalities do not occur until at least that many
years have passed.
3. PSP pure akinesia with gait freezing (PSP-PAGF): This PSP phenotype is
highly predictive of PSP-tau pathology. It occurs as a syndrome that includes
progressive gait disturbance with start hesitation and subsequent freezing of gait,
speech or writing in the absence of tremor, rigidity, dementia or eye movement
abnormalities during the first 5 years of the disease.
4. PSP progressive non-fluent aphasia (PSP-PNFA): It is characterized by non-
fluent spontaneous speech with hesitancy, phonemic errors, and agrammatism.
This language-based PSP presentation also includes the more recently identified
syndrome progressive apraxia of speech.
5. PSP cerebellar: Kanazawa etal. [19] described cerebellar involvement in PSP.
They studied 22 consecutive Japanese patients with pathologically proven PSP
and 3 patients developed cerebellar ataxia as the first major symptom.
6. PSP corticobasal syndrome (PSP-CBS): It is characterized by progressive,
asymmetrical, levodopa-unresponsive parkinsonism with ideomotor apraxia,
cortical sensory loss, alien limb phenomenology, dystonia, and myoclonus of the
most severely affected limb.
The most important MRI abnormalities in PSP patients are midbrain atrophy and
superior peduncle atrophy (Fig.3.2) [20]. The humming bird and morning
glory signs have high specificity but rather low sensitivity [16, 17].
[18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) studies in
PSP patients show characteristic brain glucose hypometabolism in the mesial frontal
and insular regions and in the midbrain [2].
There are no effective symptomatic or curative treatments for PSP. Poor or absent
response to levodopa is one of the diagnostic criteria for PSP with marked or
prolonged levodopa benefit being an exclusion criterion [2, 15, 16]. Serotoninergic
drugs such as selective serotonin reuptake inhibitors, 5-hydroxytryptophan, and
methysergide have no confirmed benefit in PSP, in addition to cholinergic drugs, such
as acetylcholinesterase (AChE) inhibitors, and muscarinic agonists. Botulinum toxin
may be helpful in PSP for treating dystonia such as retrocollis and apraxia of eyelid
opening, reducing disability provoked by these symptoms [15]. A dextromethorphan/
quinidine combination may be helpful among those who develop troublesome
pseudobulbar affect. Recent clinical trials with tideglusib (an inhibitor of glycogen
Fig. 3.2 Brain MRI (midsagittal T1-weighted image) showing atrophy of the midbrain in a patient
with progressive supranuclear palsy
synthase kinase-3), davunetide intranasal spray (shown to promote microtubule

stability and reduce tau phosphorylation), and high-dose coenzyme Q10 and rasagiline
(1mg/day) have failed to support clinical benefits [12].
Corticobasal Degeneration
Corticobasal degeneration (CBD) was first described in 1968 as a corticodentatonigral

degeneration with neuronal achromasia [21] and is the leading cause of the so-called
corticobasal syndrome (CBS). Given the heterogeneity of the clinical syndrome (CBS
can be due to many etiologies, including CBD, but also Alzheimers disease, frontotem-
poral lobar degeneration, and PSP) and the pathological syndrome (CBD can be associ-
ated with CBS, PSP syndrome, PNFA, and posterior cortical atrophy syndrome), the
diagnosis of CBD/CBS may remain elusive during life [2]. Only 2556% of suspected
CBS cases have been given pathological confirmation of CBD [22]. CBS typically
presents in the sixth decade of life with markedly asymmetrical symptoms in the upper
limbs, less commonly in the lower limbs. It is evenly distributed between the sexes and,
owing to its rare occurrence, the exact prevalence of this syndrome is not known but is
believed to be around 2in 1,000,000 people [2, 23, 24]. It is a progressive disease with
a survival span of about 7 years. The most common clinical signs and symptoms are
asymmetrical levodopa-resistant parkinsonism with dystonia, myoclonus, and cortical
signs, including cortical sensory loss, apraxia, and alien limb phenomenon in the most
severely affected limb. Cognitive impairment tends to be less overt than in PSP but
greater than in MSA. Other less common symptoms are abnormal eye movements
(increased latency of saccades), postural instability, falls, abnormal gait, axial rigidity,
and a high-amplitude tremor that is greater posturally when resting [2, 22, 23].
Corticobasal degeneration is characterized by the widespread deposition of
hyperphosphorylated 4-repeat tau in neurons and glia, and neuronal degeneration in
the frontotemporal cortex and substantia nigra. The hallmark feature is the astro-
cytic plaques that differentiate CBD from other 4R tauopathies, particularly PSP.
Similar to PSP, CBD is associated with the H1 haplotype of the MAPT gene [24].
Neuropathological studies have shown that CBS may be due to Alzheimers
disease, PSP, and forms of frontotemporal dementia. Conversely, pathologically
confirmed CBD cases may exhibit a range of phenotypes including CBS but also
frontotemporal dementia, primary progressive aphasia (PNFA, in particular), and
posterior cortical atrophy [2, 25].
Neuroimaging studies of CBS patients, including brain MRI and FDG-PET or
SPECT, show asymmetrical frontoparietal atrophy and hypometabolism respec-
tively [26]. Cerebrospinal fluid biomarkers have not yet been adequately studied in
patients with CBS/CBD [2224].
As with other forms of APD, there is a low yield in the symptomatic treatment
available for CBS. There is generally no response to dopaminergic drugs, including
levodopa at doses as high as 2g/day. Myoclonus can be alleviated with clonazepam
and/or valproate or levetiracetam. Focal arm dystonia may be alleviated with anti-
cholinergic drugs or botulinum toxin [2]. Dementia can be treated with cholinester-
ase inhibitors, but the effectiveness of this approach remains unproven.
hysical Therapy in Parkinsonian Syndromes

P
There is scarce evidence on specific physical therapies in parkinsonian syndromes,
such as PSP, MSA, and CBD. In most cases, long-term efficacy has not been
reported. Patients with APD reviewed above can exhibit faster progression, less or
no response to antiparkinsonian medications, and shorter survival compared with
PD, all of which limit response to physiotherapy. Further controlled studies to
provide guidance to physical therapists in the management of these diseases are
lacking.
Below is a summary of the (largely anecdotal [case reports or case series]) studies
investigating the effect of physical therapy to improve motor control in patients with
PSP, MSA and CBD.
hysical Therapy in Progressive Supranuclear Palsy

P
Patients with PSP are usually referred for physical therapy (PT) to treat balance and
gait problems with frequent falls. Gait training and movement strategies that are
useful in PD may also be applicable in PSP and other APDs. Behaviorally, balance
impairment in the mediolateral plane (i.e., sideways) is often seen in patients with
APDs, but not in patients with PD [27]. This is reflected by the distance between the
feet during gait, which is typically normal (or even narrow) in PD, but widened in
PSP and MSA. Estimating this stance width is difficult in clinical practice, without
objective measures. Nevertheless, this mediolateral balance impairment can be
revealed using two simple tests: (1) inability to perform tandem gait (one or more
side steps being abnormal) [28]; and (2) self-report by patients who have lost the
ability to ride a bicycle [29]. Both tests are useful for distinguishing PD from atypi-
cal parkinsonism, even in the early course of the disease [27].
Suteerawattananon etal. [30] described the rehabilitation of one patient (a
62-year-old man) diagnosed with PSP. His major problems were impaired balance
and frequent, abrupt falls. His PT program included walking training, balance
perturbation, and step training using body weight support with a treadmill.
Training sessions lasted 1.5h and took place 3 days a week for 8 weeks. Fall
incidence, balance, and gait were assessed before, during, and after the program.
The patient reported fewer falls during and after training. Balance and gait
improved after training [30].
Steffen etal. [31] evaluated a 72-year-old man diagnosed with mixed PSP
and CBS features after 6years of disease. He had asymmetric limb apraxia,
markedly impaired balance, and frequent falls during transitional movements.
PT intervention included routine participation in a PD group exercise program
(mat exercises and treadmill training) and intermittent participation in individual
locomotor training on a treadmill. The exercise group met for 1h, twice weekly.
The individual treadmill sessions lasted 1h, once weekly, for two 14-week
periods during the follow-up period. Over a 2.5-year follow-up period, fall
frequency decreased, and tests of functional balance showed improved stability
(functional reach tests) and maintained balance function (Berg Balance Scale).
Tests of walking performance showed only a slight decline. A four-wheeled
walker was introduced and accepted by the patient early in the intervention
period. With supervision, he remained ambulatory in the community with this
wheeled walker. The authors concluded that PT, relying on locomotor training
using a treadmill and a long-term exercise program of stretching and strength-
ening, may improve some dimensions of balance, slow the rate of gait decline,
prevent progression to wheelchair dependence, and decrease the number of
falls. Contrary to the expected decline in function, this patient maintained
independent mobility beyond 2 years [31].
Steffen etal. [32] subsequently published a longer-term (10years) follow-up in
the same PSP/CBS patient. The falls (reported weekly over the study period by the
patient and his wife) decreased from 1.9 falls per month in year 1 to 0.3 falls per
month in year 10. Taken together, the functional data described in these reports with
regard to mobility, balance, walking speed, falls, and endurance strongly suggest the
importance of a regular and aggressive exercise program to prolong longevity,
decrease the number of falls, and promote stability of function (including balance
and ambulation) for a patient with suspected CBS/PSP syndrome [32].
It is known that people with PSP have difficulty suppressing the vestibulo-ocular
reflex (VOR) [18]. The inability to generate saccades can compromise safe ambulation.
Anticipatory saccades normally occur in situations that involve changing the direction
of walking [33] or before obstacle avoidance [34]. When saccades are not generated
quickly, there is an increased risk for falling [35].
Rehabilitation strategies for PSP are likely to differ from those for PD because
vertical gaze palsy is unique to PSP and has the potential to create additional
balance and mobility problems. Therefore, the rehabilitation for PSP should involve
eye-movement training in addition to balance and gait training.
Lindemann etal. [36], using dual-tasking paradigms to assess differences
between patients with PSP who fell frequently and those who fell less often, found
more ocular movement difficulties, decreased postural stability, and decreased
cognition in the former than in the latter group. The frequent fallers demonstrated
a significant increase in cadence and a decrease in step length compared with the
infrequent fallers, but the groups did not differ significantly under dual tasking for
maximal gait speed. These findings may reflect a first adaptation with dual tasking
to produce safer walking by decreasing step length. A decrease in cadence was
found to be the next adaptation, when needed. These findings also suggest that
falls might result from cognitive and ocular dysfunction in addition to the
parkinsonian features [36].
Zampieri etal. [37] investigated 19 adults with possible or probable PSP and
postural instability. Balance training accompanied by eye movement and visual
awareness exercises was compared with balance training alone. The gaze control
was assessed using a vertical gaze fixation score and a gaze error index. Gaze
control after the balance plus eye exercise significantly improved, whereas no
significant improvement was observed for the group that received balance
training alone [37].
Recently, Seamon etal. [38] described an intervention using a virtual gaming
system to improve gait, postural control, and cognitive awareness to reduce falls
and improve the quality of life for a patient with PSP. A 65-year-old woman
with a 5-year disease duration and frequent falls, poor ability to visually track
objects, axial rigidity, retropulsion, poor postural control, with reaching and
cognitive decline was assessed. She was provided with the Xbox Kinect for 12
one-hour sessions over 6 weeks in an outpatient setting. The games were
selected to challenge functional motor and cognitive tasks based on patient
enjoyment. After the intervention with virtual reality the patient showed
decreased falls and maintenance of scores on the Berg Balance Scale, Timed Up
and Go (TUG), and 10-Meter Walk Tests above fall risk values. A decline in
quality of life measures, PDQ-39 and Fear of Falling Avoidance Behavior
Questionnaire, may be attributed to an increase in cognitive awareness of
deficits promoted by the intervention structure. According to the authors, the
implementation of a gaming intervention using a virtual gaming system is
feasible for reducing fall risk and maintaining function and mobility when used
in an outpatient setting [38].
In conclusion, these studies have suggested that a combination of balance/walk
interventions [3032, 37, 38] and eye movement training [37] may improve the
functional performance of patients with PSP.
hysical Therapy in Multiple System Atrophy

P
Patients with MSA present not only a functional incapacity, but also a greater
severity of motor symptoms compared with patients with PD [39]. They also exhibit
muscle weakness [40] with subsequent impaired muscle performance [41] and loss
of balance [39]. These factors contribute to an increased risk for falls. Clinical prac-
tice suggests that most patients might be poorly responsive to antiparkinsonian
drugs. In this context, rehabilitation strategies may be helpful.
The beneficial effects of Tai Chi in the improvement of gait and posture in PD
patients are well established in the literature [4244]. Venglar [45] described the
effects of an 8-week Tai Chi class on two patients: one with PD, the other MSA.
Both patients demonstrated improved scores on the Activities-specific Balance
Confidence Scale and the Functional Reach Test. One subject also demonstrated
improved scores for the Timed Up and Go test. Both subjects reported subjective
improvements in balance and balance awareness. This study indicated that Tai Chi
might be a viable option for improving balance in patients with MSA [45].
Wedge [41] showed that a low to moderate intensity conventional resistance
training program was able to improve the functional ability, balance, and muscle
performance in a 68-year-old woman with a 2-year history of MSA. Examination
included range of motion, muscle strength, motor control ambulation with and
without assistive device, and determination of orthostatic hypotension. Functional
Reach, TUG, timed single limb stance, and the Performance Oriented Mobility
Assessment tests were used to assess safety, balance, and fall risk. Hypokinesia
and festinating gait were observed during ambulation. Transfers from sitting to
standing were functional, but compromised safety. Impairments of muscle perfor-
mance were found at the ankle, knee, and hip. Low to moderate intensity, lower
extremity resistance training was added (twice weekly) to an existing program of
balance and flexibility exercises. Clinically meaningful gains were achieved in all
functional measures, and the patient performed SLS for 10s when previously
unable. More importantly, she achieved her goal of remaining at home. The addi-
tion of resistance training to an existing program of balance and flexibility exer-
cises did not cause any adverse effects and appears to have led to improvements in
balance and functional ability [41].
Batista etal. [46] assessed quality of life, activities of daily living, motor symp-
toms, functional ability, and neuromuscular parameters in a patient with MSA. The
program of resistance training with instability was performed twice a week during 24
weeks for a total of 48 sessions performed. The patient was tested and trained in the
clinically on state (fully medicated) during the morning time within 1.5h of taking
his last dose of the dopaminergic drug. Each training session lasted between 40 and
50min, and started with a 10-min warm-up on a bicycle ergometer (2040rpm). The
resistance training with instability devices consisted of conventional external load
lower-limb resistance training machines (i.e., leg press and plantar flexion) and free
exercise (i.e., half-squat) with unstable devices (i.e., balance pad, dyna discs, balance
discs, BOSU ball, and Swiss ball). The unstable devices were placed between the
patients base of support (i.e., the body area responsible for sustaining most of his
body weight and/or on the point of force application) and the resistance training
machines for each individual exercise. Progression with the unstable device was
included in the training program from less unstable to more unstable. After the
6-month training, the patients left and right quadriceps muscle cross-sectional areas
and leg press one-repetition maximum increased by 6.4%, 6.8%, and 40% respec-
tively; the TUG, sitting to standing transfer, dynamic balance, and activities of daily
living improved by 33.3%, 28.6%, 42.3%, and 40.1% respectively; and the severity
of motor symptoms and risk of falls decreased by 32% and 128.1% respectively.
Most of the subscales of quality of life demonstrated improvements as well, varying
from 13.0 to 100.0%. This study showed that resistance training may decrease the
severity of motor symptoms and risk of falls, and improve functional ability, neuro-
muscular parameters, and quality of the life in patients with MSA [46].
Current treatment strategies for MSA focus on the control of neurogenic ortho-
static hypotension (nOH) [47]. Patients with severe nOH suffer from debilitating
symptoms that substantially impair their ability to complete activities of daily living
and reduce their quality of life. A high incidence of fall-related fractures and trauma
occurs in patients with severe nOH [48]. Classic nOH symptoms, such as orthostatic
dizziness and syncope, and less appreciated symptoms, such as coat-hanger pain
and cognitive impairment, can force patients to curtail activities that involve stand-
ing or walking [49]. In addition to pharmacological strategies (see above) [50]
patients may be treated with physiotherapy[51]. Exercises, especially activities that
are performed recumbent or in water, are encouraged to prevent deconditioning,
which can exacerbate nOH [52]. However, patients should avoid exercising in the
morning, when orthostatic symptoms are typically worse. Is also recommended that
when changing position they should do so slowly to allow time for autonomic adap-
tion. For instance, when going from a supine position to walking, patients should sit
before standing and stand for several minutes before walking [53].
hysical Therapy in Corticobasal Syndrome

P
Early in the disease course, PT may help to improve or maintain mobility and help
with assessing the need for assistive devices (e.g., walkers) to improve gait and
decrease the risk for falls. Later in the disease course, involvement of
physiotherapists is critical for home safety assessments and appropriate wheelchair
provision (e.g., to prevent pressure ulcers) and to instruct caregivers on range of
motion exercises.
To our knowledge, there are only two studies describing the effects of PT [54]
and PT plus repetitive transcranial magnetic stimulation (rTMS) [55] in patients
with CBS.
Kawahira etal. [54] studied the effect of repetitive facilitation exercise in a patient
with CBS. This exercise included movements of each isolated finger using the stretch
reflex and skinmuscle reflex and repetitive movements demanded in activities of
daily living and manipulation of objects. To evaluate improvements in hand functions
by repetitive facilitation exercise, 1-week repetitive facilitation exercise sessions for
the hand were administered alternatively to the left or right hand. The number of finger
taps by the hand increased during each 1-week repetitive facilitation exercise session
for the hand, but did not increase during 1-week sessions without repetitive facilitation
exercise. After 1 month of treatment, there was an improvement in activities of daily

living, including wearing clothes, manipulating objects, and cooking. These results
suggest that facilitation exercises and repetition movements in activities of daily living
might aid recovery in patients with CBS [54].
Shehata etal. [55] investigated low-frequency repetitive transcranial magnetic
stimulation (rTMS) as a therapeutic tool in CBS. Twenty-six patients with clinically
probable CBS were followed for 1218 months while receiving low-frequency
rTMS combined with rehabilitation treatment and botulinum toxin injection in the
affected dystonic limb. There was improvement in the UPDRS (measure of motor
severity) and quality of life after 3 months of therapeutic interventions (P<0.001
and <0.05 respectively). No significant deterioration in cognitive function was
detected over the study period. There was a reduction in the caregiver burden after
3 months of interventions (P<0.01); this improvement was maintained for up to 18
months. The authors concluded that the combined treatment approach was effective
in improving quality of life and reducing the caregiver burden [55].
Demand for rehabilitation in this and other parkinsonian populations will
increase, but more research is necessary to answer basic questions regarding the
type and dosage of the above rehabilitation strategies.
Speech Therapy inAPD
Multiple System Atrophy
Dysarthria and dysphagia are known to occur in MSA, PSP, and CBD [56]. Some
studies report that the appearance of dysarthria during the first year of disease in
patients with degenerative parkinsonism strongly suggests one of these disorders,
most commonly MSA or PSP [57].
The response to levodopa is negligible. As a result, the multidisciplinary patient
support through speech therapists, physiotherapists, occupational therapists, and
nurses plays an important role in the treatment [58]. Speech and voice alterations
are due to impairments in muscle control caused by central and, to a lesser extent,
peripheral nervous system involvement [59]. The speech abnormalities of these dis-
orders can be classified as hypokinetic, ataxic, hyperkinetic, spastic, and mixed
[60]. To develop effective methods of speech therapy to improve the communication
of patients, it is necessary, first, to classify the speechlanguage disorders into these
dysarthrophonia categories.
A study conducted by Knopp etal. [61] characterized the disorders of speech and
voice of five patients with MSA, with a mean age of 51.2years. The symptoms of
speech and voice appeared 1.1years after the onset of motor symptoms. In all
patients, dysarthrophonia was the mixed type, combining the hypokinetic compo-
nents, ataxic and spastic, the former being predominant.
In the 1990s, Countryman etal. [62] examined the Lee Silverman Voice
Treatment (LSVT), originally designed for PD patients, in two patients with MSA,
with different outcomes for each, according to the predominance of parkinsonian or

autonomic features. Thus, not only the classification of the type of dysarthrophonia
is important, but also distinguishing the predominant symptoms.
In a classical description of 100 cases Wenning etal. [63] reported that dysarthria
occurs in almost all patients with MSA confirmed post-mortem. Typically, voice
and speech alterations that accompany APDs are different from those observed in
PD, especially with regard to two specific points: gravity in relation to the duration
of the disease and the type of dysarthrophonia. Quinn [64] suggests that a diagnostic
indicator of MSA is the occurrence of more severe symptoms and faster speech
deterioration than in PD.In PD, the average interval between the onset of motor
symptoms and speech symptoms is 6.3years [65]. The dysarthrophonia accompa-
nying PD is classified as hypokinetic and the perceptual features are: monotone,
articulatory imprecision, inadequate breaks, speech jets, hoarse and breathy voice,
and speech rate alteration [66]. However, the description of dysarthrophonia of
MSA has been different from that of PD: these patients have excess hoarseness,
intermittent baseline emission (lowest frequency of the vocal range) and decreased
speech rate [67]. In a study of 46 MSA patients, Kluin etal. [68] concluded that the
type of dysarthrophonia that characterizes this population is the mixed type, with
the combination of hypokinetic and ataxicspastic components: hypokinetic in
48%, ataxic in 35%, and spastic in 11%. Rehman [69] also reported mixed dysar-
throphonia with hypokinetic and ataxicspastic components.
Higo etal. [70] investigated the swallowing function of 21 patients with MSA-C
using videofluoroscopy (VF). Swallowing function in the oral phase became grad-
ually disturbed during the progression of MSA. Delayed bolus transport from the
oral cavity to the pharynx had already been seen in 50% of the patients within 13
years following disease onset (the early stage of the disease), and it was seen in
more than 85% of the patients within more than 7 years following disease onset
(the late stage of the disease). Bolus holding in the oral cavity was slightly dis-
turbed in the early stage of the disease, but it was seen in 57% of the patients in the
late stage of the disease. This study showed that parkinsonism is related to swal-
lowing dysfunction in MSA, but cerebellar dysfunction also affects coordination of
the tongue; bolus transport in the oral cavity was disturbed in the early stage of
disease. Progression of cerebellar dysfunction and overlapped parkinsonism wors-
ened tongue movements, and in the late stage of the disease, swallowing function
of the oral phase (bolus transport and bolus holding) was remarkably disturbed.
Swallowing function in the pharyngeal phase did not significantly correlate with
the duration of the disease; however, this study showed that swallowing function in
the pharyngeal phase was not assessed fully by VF examination in MSA-C only.
Combination with other instrumental evaluations, such as manometry and electro-
myography, may be useful, especially in the late stage of the disease. In addition,
an analysis concerning the relationship between aspiration seen on VF examination
and a history of aspiration pneumonia in MSA-C patients suggested that the sen-
sory system at the larynx and trachea should also be assessed in patients in the late
stage of MSA-C.
Silva etal. [71] evaluated three patients with MSA who showed impairment in
the oral phase to solid food, with increased oral transit time and inefficient prepara-
tion of the bolus. In the pharyngeal phase, there was reduced laryngeal elevation and
clinical signs of penetration and/or tracheal aspiration for solid and liquid
consistencies. Postural maneuver (neck flexion) and cleaning of the pharyngeal
recesses (swallowing effort and multiple swallows) were effective. The three
patients had complaints in the oral phase of swallowing owing to motor changes
already described in MSA; thus, the presence of dysarthria is an important signal in
the differential diagnosis. The change in the pharyngeal phase of swallowing was
mainly due to incoordination or reduced laryngeal elevation during the swallowing
process. The subjects of this study benefited from postural maneuvers and cleaning
the pharyngeal recesses, as the former increases airway protection and the latter
helps to remove residues in pharyngeal recesses. Patients with MSA of this study
showed oropharyngeal dysphagia with the same level of gravity. The speech therapy
should be considered important in this disorder because patients described in this
study showed improvement in swallowing.
Progressive Supranuclear Palsy
The dysphagia that occurs as an early sign of PSP, and which may predispose
patients to aspiration pneumonia, has never been fully characterized. The study by
Litvan etal. [72] evaluated 27 patients aged 64.9years (mean age) with a symptom
duration of 52 months who met the clinical National Institute of Neurological
Disorders and Stroke and Society for PSP (NINDS-SPSP) criteria for possible or
probable PSP, with a swallowing questionnaire, an oral motor and speech examina-
tion, and either a modified barium swallow or ultrasound study. Twenty-eight age-
and sex-matched healthy controls aged 65.6years (mean age) were also evaluated
using the questionnaire, oral examination, and ultrasound study. Although PSP
patients had at least one complaint on the swallowing questionnaire (mean, 6.6),
healthy controls had fewer and less relevant complaints (0.3). Patients with
moderate-to-severe cognitive disabilities had significantly more complaints of dys-
phagia than those with mild or no impairment. The oral motor skills and speech of
the PSP patients were mildly impaired, but significantly different from those of
controls. In the ultrasound studies, PSP patients had significantly fewer continuous
swallows and required longer to complete their swallows than did healthy controls.
They also had mild-to-moderate abnormalities in the modified barium swallow
study. The swallowing questionnaire, oral motor examination, and speech produc-
tion examination accurately predicted the abnormalities detected with the swallow-
ing studies. Although 75% of patients had abnormal speech, all but one had
abnormal swallowing studies. Thus, although dysphagia is associated with dysar-
thria, the two conditions are not always paired in the same patient. The authors
suggest that the swallowing questionnaire and oral motor examination are an easy
and cost-effective method for predicting the swallowing disturbances in PSP [72].
Corticobasal Syndrome
Ozsancak etal. [73] evaluated dysarthria and orofacial apraxia (OFA) in patients
with a clinical diagnosis of CBS. Voluntary movements of the tongue and the lips
were impaired in all patients. OFA, evaluated by simple and sequential gestures,
was present in the patients. Sequential gestures were more frequently impaired.
The OFA score did not correlate with the severity of dysarthria, suggesting inde-
pendent underlying mechanisms. Thus, when specifically assessed, dysarthria and
OFA are more frequent in CBS than usually reported. This study proposes that the
underlying pathophysiology is the result of a deficit in programming and execution
of repetitive movements.
Dysarthria is frequent in CBS even though it remains mild for a long period of
time. The findings support the view that even though perceptual analysis is manda-
tory in the management of dysarthric patients, it does not help with the clinical dif-
ferential diagnosis of CBS.
The study by Ozsancak etal. [74] suggests that the deficit in multiple sequential
gestures in CBD might be related to simultaneous lesions of the parietal lobule and
the supplementary motor area.
In a postmortem study, Mller etal. [56] confirmed that early dysarthria and
perceived swallowing dysfunction are not features of PD.However, when one or
both features were present, the sensitivity and specificity of their early occurrence
within the first year failed to further distinguish among the various APDs.
According to the findings of previous studies, dysarthria was frequently observed
in all patients (MSD, PSP, CBS) [63, 75, 76], with significantly longer latencies
in PD than in MSA and PSP. Similarly, dysarthria as a presenting symptom has
been described in clinical series of CBS, MSA, and PSP [75]. In PD and DLB,
hypophonic/monotonous speech represented the most frequent type of dysarthria,
whereas imprecise or slurred articulation predominated in CBS, MSA, and PSP,
in accordance with the literature [64, 75].
In a clinical study on CBS, Rinne etal. [75] described dysarthria as one of the
initial symptoms in 11% of the patients. At follow-up, on average 5.2years, dysarthria
was diagnosed in 70% of the patients. In a study of 147 CBS cases, including 7
autopsy-confirmed CBD cases, dysarthria was noted only in 29% of patients, but
there was no information on disease duration [77]. According to the findings of Mller
etal. [56], dysarthria occurred in almost every patient with CBS/CBD.
Median latencies to dysarthria and subjective dysphagia were at least twice as long
in PD than in APDs. Total survival time, in addition to survival time after onset of
dysarthria, was significantly longer in PD; however, the onset of dysphagia predicted
a similarly short remaining median survival time in MSA, PSP, and PD.Furthermore,
latencies to dysphagia correlated highly with overall survival time in all parkinsonian
disorders. These important findings suggest that the perceived swallowing dysfunction
in PD and APDs might indicate functionally relevant dysphagia. Indeed, in PD [77],
DLB [78], CBS [79], MSA [80], and PSP [72], bronchopneumonia has been reported
to be a leading cause of death, which may be subsequent to silent aspiration resulting
from dysphagia. Thus, evaluation and adequate treatment of parkinsonian patients

who complain of dysphagia may prevent or delay complications such as aspiration
pneumonia and increase survival time in these patients. Also, an appropriate and
timely swallowing evaluation may provide patients and caregivers with techniques
and resources that may in turn improve their quality of life (e.g., straws, food thickeners,
and percutaneous endoscopic gastrostomy). Patients with MSA and PSP complained
of a swallowing dysfunction, in contrast to patients with PD, CBS, and DLB. In PD,
the reported prevalence of dysphagia varies from 18.5 to 100% [80], depending on
the measurement method. Investigators who carried out assessment with barium
swallow found abnormalities in all study patients with PD [81], and complaints of
dysphagia in patients with PD were found to correlate poorly with radiological and
videofluoroscopic findings [81]. Impaired lingual proprioception is hypothesized to
contribute to the unawareness of swallowing difficulties in PD and may partly explain
significantly longer latencies to dysphagia in our PD cases. In contrast, patients with
PSP were reported to be keenly aware of swallowing problems, including those with
cognitive impairment [72]. In a clinical study on swallowing abnormalities in PSP,
Litvan etal. [72] reported abnormal results on modified barium swallow or ultrasound
studies in 96% of patients, which exceeds the 83% dysphagia in our PSP cases, a
finding that is probably related to the higher sensitivity of objective measurements.
However, the similarly short remaining survival time in PD and PSP after the onset of
perceived dysphagia suggests that this symptom might represent a reliable marker for
the onset of functionally relevant swallowing abnormalities in both disorders. Similar
to PSP, dysphagia within the first year of disease onset was observed in MSA, and
dysphagia was a frequent complaint in MSA.
In CBS, dysphagia was noticed in 31% of cases after a median disease dura-
tion of 64 months in the study by Mller etal. [56]. Dysphagia in CBS is
believed to result from bulbar dysfunction, which is uncommon initially, but
often appears after several years of disease [82]. Accordingly, none of patients
with CBS noticed early dysphagia. To our knowledge, dysphagia has not yet
been investigated systematically in CBS, and the two largest studies, by
Kompoliti etal. [77] (147 cases) and Rinne etal. [75] (36 cases), provided no
data on the frequency or latency of dysphagia.
The findings of increased latency to dysarthria and dysphagia and a similar
time interval from onset of dysphagia to death in patients with PD compared with
patients with APDs suggest that extra-striatal and nondopaminergic lesions might
represent an important factor in the development of dysarthria and dysphagia.
Whereas the APDs are characterized by multiple system neuronal degenerations,
in PD disease progression is determined by a progressive dopaminergic deficit
arising from the selective neuronal degeneration of the pars compacta of the
substantia nigra. It may be the overall degenerative lesion load in excess of the
dopaminergic projection that shortens the onset of axial features, such as dysarthria
and dysphagia, and therefore predicts poor survival in patients with PD.However,
the presence of distinct neuropathological lesion patterns in these disorders
suggests that disease-specific factors might contribute to the pathophysiological
processes underlying dysarthria and dysphagia.
In relation to swallowing changes in the advanced phases of APDs, patients may

have a lack of laryngeal closure during swallowing and consequently aspiration,
because as described above, penetration was observed, with sequential aspiration.
Consequently, swallowing disorders could be associated with considerable morbid-
ity, under-nutrition, lack of hydration, and pulmonary sequelae [83]. However,
patients are usually referred for or seek hearing assistance when complaints present
and the symptoms are already at a more advanced stage; when, for example, chok-
ing is common during meals, or it becomes necessary to reduce the consistency and
quantity of food, leading the patient to a state of debilitation, in extreme cases
requiring the use of a nasogastric or gastrostomy tube. When dysphagia is detected
early, the patient can practically resume normal deglutition and even delay the evo-
lution of this change, in view of the progressive aspect of the disease.
This is possibly due to muscle rigidity, bradykinesia, or even akinesia and a lack of
coordination of movements present in the disease, inducing weakness and incapacity
of the oral muscles. At the loss of these muscles, the food is not well masticated and
eating may result in coughing and/or gagging, or more frequently throat clearing.
In the advanced stage of APDs, we observed clinically frequent impairment in
patients in swallowing his/her own saliva, or the automatic engine movement is no
longer performed, inducing an excessive amount of saliva in the oral cavity, which
may then escape through the lips, making it a compelling factor in the social
environment or disrupting the correct emission of speech sounds, compromising
intelligibility, or when the saliva accumulates in the pharynx, and not swallowed, the
possibility of gagging also increases and gives the distressing sensation of a wet voice,
which makes it difficult to understand speech. Furthermore, the presence of large
amounts of saliva can hinder the performance of exercises during the speech therapy
of voice, speech, and/or deglutition.
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Rehabilitation ofDystonia
4
DirkDressler andFereshteAdibSaberi
Introduction
Dystonia is a syndrome describing a special form of muscle hyperactivity

characterised by sustained or intermittent muscle contractions causing abnormal,
often repetitive movements, postures, or both. Dystonic movements are typically
patterned, twisting, and may be tremulous. Dystonia is often initiated or worsened
by voluntary action and associated with overflow muscle activation [1]. Dystonic
muscle hyperactivity is often painful and may produce complications in connective
tissues, ligaments, the spinal cord, nerve roots, peripheral nerves, blood vessels,
spinal discs and joints.
Dystonia is usually classified according to its location within the body. Cranial
dystonia includes periocular dystonia (blepharospasm), mandibular dystonia,
perioral dystonia, lingual dystonia and combinations of these (oromandibular
dystonia, Meige syndrome: blepharospasm and other forms of cranial dystonia).
Cervical dystonia may be distinguished according to the patients predominant
head postures. Distinguishing between deviations of the head and those of the
neck, numerous postures may be described: torticollis, laterocollis, laterocaput,
antecollis, antecaput, retrocollis, retrocaput, anterior sagittal shift (antecollis
and retrocaput), posterior sagittal shift (retrocollis and antecaput), lateral shift
(laterocollis and contralateral laterocaput). Dystonia may also be localised to the
pharynx, larynx (spasmodic dysphonia), in limbs and in axial muscles. In focal
dystonia one body region is affected; the terms segmental, multisegmental and
generalised dystonia describe more wide-spread involvement. Other classifications
are based on the age at manifestation, the continuity of occurrence (continuous,
D. Dressler, M.D., Ph.D. (*) F. AdibSaberi, M.D.

Movement Disorders Section, Department of Neurology, Hannover Medical School,
Hannover, Germany

DOI10.1007/978-3-319-46062-8_4
68 D. Dressler and F. AdibSaberi
intermittent, paroxysmal) and the conditions of occurrence (task-specific,

action-induced, spontaneous). Causal factors may also be considered for classifica-
tion: idiopathic, symptomatic owing to structural lesions, pharmacological
interactions, metabolic disorders and psychogenic reactions. In idiopathic
dystonia a genetic predisposition and epigenetic triggering factors are assumed.
Triggering factors may be extreme stress, functional overuse and age. Dystonia
may occur as an isolated symptom or in the context of other symptoms or
conditions. The prototypical dystonia patient suffers from idiopathic cervical
dystonia or blepharospasm starting in his sixth or seventh decade of life, showing
slow progression over a few years and then reaching a stationary course.
Pathophysiology includes a lack of cortical inhibition arising from basal ganglia
dysfunction. Genetic predisposition seems likely; however, an extremely low
penetrance indicates the major importance of epigenetic factors that are, however,
largely unidentified.
Depending on the location of the dystonia differential diagnoses include tics,
hemifacial spasm, tremor, myoclonus, myasthenia gravis, ptosis, eyelid dehiscence,
focal polymyositis, dens subluxation, traumatic torticollis, ocular or vestibular tor-
ticollis. Diagnosis of dystonia is focussed on identification of treatable courses such
as tumours, infections, dopa responsiveness and rare metabolic conditions such as
Wilsons disease. In prototypical cases the diagnostic process is brief and straight-
forward; however, in atypical cases complex metabolic and genetic testing may
become necessary.
The overall frequency of dystonia is difficult to describe, as the severity varies
greatly. It is probably half that the frequency of parkinsonism. In declining order,
the relative frequency is cervical dystonia, blepharospasm, writers cramp, laryn-
geal dystonia (spasmodic dysphonia), segmental/multisegmental dystonia and gen-
eralised dystonia.
The course of dystonia is chronic, with slow progression during the first years
and a plateau phase thereafter. It is important to realise for the patient and the physi-
cian that dystonia is not continuously progressive like other neurodegenerative dis-
orders. Equally important for the patient is the fact that idiopathic dystonia does not
affect cognitive function in a clinically relevant way.
Special Features ofDystonia
Dystonia has a number of special features that are relevant to therapeutic

interventions. It can be substantially modified by a number of factors (Table4.1),
one of which is psychological tension. Psychological stress and anxiety usually
aggravate dystonia, whereas relaxation improves it. Another modifying factor is
changing the sensory input to the central nervous system either on somatosensory
or proprioceptive pathways. Wearing silk scarves may reduce cervical dystonia
and changing the texture of the pen may reduce writers cramp. Changing the
4 Rehabilitation ofDystonia 69
Table 4.1 Modifiers of dystonia

Dystonia Effect on
Modifier type affected dystonia
Tension Stress, anxiety All
Relaxation All
Sensory input Wearing silk scarves CD
Changing the texture of the pen WC
Motor output General motor activation (overflow) All
Forced postures All
Dancing, horse riding All
Using print characters WC
Changing the position of the pen and the arm WC
Changing the position of the musical instrument MC
Singing, increasing the pitch SD
Sensory input and Geste antagoniste CD
Touching the lateral periocular skin BS
Motor output Biting matches, using chewing gum OMD
BS blepharospasm, CD cervical dystonia, OMD oromandibular dystonia, MC musicians cramp,
WC writers cramp
motor activity of the central nervous system may also be a modifying factor of
dystonia. General physical activity and forced postures usually increase dystonia
(overflow effect), whereas resting and relaxation improve it. When negative
physical activity is combined with psychological tension, as is the case when
working on a production line without being able to interrupt the mechanics, the
effect may be disastrous. On the other hand, working at a self-paced speed with
self-set pauses and a change of position is often a relief for the patient. Rhythmic
activities such as dancing and horse-riding may improve all forms of dystonia.
When using print characters, changing the position of the pen and the arm may
improve writers cramp, changing the position of the musical instrument may be
beneficial for musicians cramps, and singing and increasing the pitch may
improve spasmodic dysphonia. Changing dystonically impaired motor pro-
grammes can be effective. This approach is frequently used in occupational ther-
apy re-training programmes, especially in task-specific dystonia. Amending both
the motor output from the central nervous system and the sensory input to the
central nervous system may produce very specific effects. The geste antagoniste,
the combination of a self-intended movement or posture and the elucidation of
sensory effects in the patient, reduces cervical dystonia and dystonic neck tremor.
It is specific to dystonia and is not seen in other conditions. Effects on the
wrong side of the chin indicate that the geste antagoniste is not a mechanical
manoeuvre. Imitation of the sensory effect via an external source is not effective.
Touching the lateral periocular skin, a sensory manoeuvre similar to the geste
antagoniste, may reduce blepharospasm; biting matches and using chewing gum
may lessen oromandibular dystonia.
Treatment ofDystonia
Dystonia is a chronic condition. In idiopathic dystonia, by far the most common

form of dystonia, the cause is not known and in symptomatic dystonia most causes
are not reversible. The typical treatment of dystonia, therefore, has to be symptomatic
and long-term [2]. As no single treatment option produces complete remission of
the symptoms, combinations of different treatment modalities often become
necessary. Disease-modifying treatments are not known.
Antidystonic Treatment
Botulinum toxin (BT) therapy is the most effective way of relaxing dystonic muscle
hyperactivity. BT produces a strictly local, well controllable and fully reversible
blockade of the cholinergic neuromuscular synapse for approximately 3 months. Its
application is based upon an injection scheme including the target muscles and their BT
doses. The development of appropriate injection schemes greatly depends on the experi-
ence of the injector. Most cases of therapy failure are actually caused by inappropriate
injection schemes and are therefore therapist failure. Best results are obtained in focal
dystonia. However, recent publications indicate that total BT doses are higher than
previously thought; thus, more widespread dystonia can also be targeted [3]. Dystonic
muscle activity can also be suppressed by surgical interventions. Deep brain stimulation
(DBS) blocks certain basal ganglia pathways by continuous high frequency stimulation
through stereotactically implanted electrodes. Target of the stimulation is the globus pal-
lidus internus. For tremor-type dystonia thalamic targets may also be used. DBS works
best in idiopathic dystonia. It has a far-reaching effect and is therefore recommended for
non-focal dystonia. A combination of posterior ramisectomy, peripheral denervation
and myectomy of the sternocleidomastoid muscle is called the Bertrand procedure [3].
Before BT therapy it was commonly used with some success to treat cervical dystonia.
Other selective denervations and myectomies may be used in special forms of very
localised dystonia. Spinal cord stimulation turned out not to be effective.
Antidystonic Drugs
A large number of drugs were tried to treat dystonia. In general, drug treatment of
dystonia is disappointing as it is usually ineffective and often accompanied by
severe adverse effects. Best antidystonic effects are produced by anticholinergic
drugs, especially in children tolerating high doses. Antidopaminergic drugs may
also be helpful. Dopamine receptor blocking agents, however, bear the risk of
inducing tardive dystonia; dopamine-depleting agents do not, but often produce
parkinsonism and depression. GABA-ergic compounds have also documented
antidystonic efficacy. Continuous intrathecal baclofen administered through an
implanted pump was tried with mixed results in non-focal dystonia [5].
Adjuvant Drugs
Analgesics may be used if there are painful secondary complications and when the
painful dystonic muscle activity cannot be sufficiently suppressed otherwise.
Anxiolytics can reduce stress as a dystonia facilitating factor. Knowing that there is
the option to use them sometimes helps.
Rehabilitation ofDystonia
Methods
Rehabilitation of dystonia includes a number of therapeutic interventions such

as physiotherapy, occupational therapy, speech therapy, psychotherapy and the
use of orthoses. Additionally, counselling of the patient and his/her family plays
an important role. The goals of rehabilitation of dystonia include re-training of
normal postures and movement patterns, prevention and therapy of secondary
complications and coping with pain and the burden of a chronic disease.
Structural Aspects
As dystonia is a chronic condition and there is no cure for it, rehabilitation of

dystonia needs to be provided continuously. The combination of methods
applied and their frequency and intensity depend on the severity of the patients
individual dystonia. It is best offered on an outpatient basis within the patients
community. This concept of rehabilitation of dystonia, however, does not match
the traditional concept of rehabilitation as a short intense inpatient intervention
to correct an acute deficit. Structures to provide appropriate rehabilitation of
dystonia are lacking in many health care systems. One strategy to overcome this
deficit is the Interdisciplinary Working Group for Movement Disorders (IAB)
[6]. It is a network of medical and non-medical and inpatient and outpatient
movement disorder therapists dedicated to interdisciplinary collaboration. It is
based on regional groups backed up by a central office providing various data
bases, educational material and scores and scales to harmonise the evaluation of
movement disorders and their therapies. Recently, the IAB started the IAB
Academy, providing government-accredited, structuralised education for
movement disorder specialists.
Another problem of rehabilitation of dystonia is the lack of academic and
scientific structures in many countries. Compared with other health care sectors the
disease terminology and the descriptions of interventions are often ambiguous.
Coupled with a general lack of robust studies, it is therefore difficult to compare and
evaluate the efficacy of the rehabilitative interventions offered [7].
Cervical Dystonia
Figure4.1 shows some typical patients with cervical dystonia. BT therapy is the
treatment of choice for cervical dystonia. In patients with special forms of dystonia,
such as antecollis, antecaput, tremor forms or alternating forms, and in patients with
antibody-induced therapy failure, DBS is an alternative. Antidystonic drugs and
adjuvant drugs may be used at the end of the BT treatment cycle. When BT therapy
is used, physiotherapy is necessary in most patients to activate antidystonic muscles
and to re-learn the normal head position. It also helps to mobilise existing
contractures or to prevent them. Based on these principles and on several decades of
Fig. 4.1 Patients with cervical dystonia. From: Dressler [74]

practical experience, Bleton has developed a physiotherapeutic training programme

[8] that is now used in many countries around the world. However, a recent study
challenged its efficacy [8]. Other studies demonstrated that physiotherapy may
reduce BT doses [10, 11].
Behavioural therapy is mainly based on electromyographic feedback techniques.
Nine studies used feedback techniques with some success and sometimes continued
improvement [1219]. However, only two of them [14, 16] used a randomised
design. Other behavioural techniques [2022] are based on changes in the sensory
input to the central nervous system [23, 24]. Vestibular stimulation [25] and orthosis
[25] were occasionally used in small case series with mixed results.
Blepharospasm
Figure4.2 shows some typical patients with blepharospasm and Meige syndrome.
The treatment of choice for blepharospasm is BT therapy. It produces robust improve-
ment in most patients treated. In some patients, results are less favourable, usually
because of additional eyelid opening apraxia (levator inhibition) preventing appro-
priate activation of the levator palpebrae muscle. Levator suspension operation [27]
connecting the upper eyelid to the frontalis muscle via a Goretex string is helpful.
Alternatively, a spring attached to a spectacles frame may help (Fig.4.3). Patients
starting to use plasters usually report skin irritations after a short period of time. DBS
Fig. 4.2 Patients with blepharospasm. From: Dressler [74]

Fig. 4.3 Springs attached to a spectacles frame to cope with eyelid opening apraxia as part of
blepharospasm
is principally effective in blepharospasm; however, BT therapy is considerably less

invasive. Peripheral denervation operations are obsolete because of frequent
excessive periorbital pain and uncontrollable effects.
Rehabilitation of blepharospasm is mainly based on electromyographic feedback
strategies developed in the 1970s [2833]. Reducing factors facilitating the normal
blink reflex, such as bright light and cold air by wearing sunglasses may be helpful.
Laryngeal andPharyngeal Dystonia
Laryngeal dystonia (spasmodic dysphonia) is an extremely rewarding indication for

BT therapy. Adductor as well as abductor forms respond well. BT may be applied
transcutaneously under electromyographic monitoring or transorally under direct
visual control. Pharyngeal dystonia often occurring in patients with tardive dystonia
may also be treated with BT therapy.
Rehabilitation of spasmodic dysphonia is usually applied as speech therapy.
Speech therapy tries to improve breathing, tongue, lip and mandibular movements
and tries to maintain a dystonia-free phonation. The basic idea is to focus attention
on these single elements and to train for optimal performance. General recommen-
dations include avoidance of stress, of voice overuse and of unfavourable situations,
including talking over the phone and noisy places.
Blitzer and colleagues [35] found in a retrospective review of 110 patients with
spasmodic dysphonia that speech therapy, psychotherapy and feedback techniques
had limited success, whereas one third of patients benefited from systemic medica-
tion and all patients improved with BT therapy. Speech therapy may increase the
duration of BT therapy in spasmodic dysphonia [35].
Rehabilitation of pharyngeal dystonia is usually aimed at improving swallowing.

It is usually applied by speech therapists as swallowing therapy. Again, it is based
on focusing attention on the single elements of the swallowing process and on train-
ing their optimised performance. General recommendations include changing the
food consistency to either liquid or solid, careful food preparation, thorough chew-
ing, eating under optimal conditions (no distraction, upright body position) and
repeated clearing of the throat. Nasogastric tube feeding will only rarely become
necessary and should be avoided if possible.
Task-Specific Dystonia
Figure4.4 shows some typical patients with task-specific dystonia. For writers cramp
and musicians cramps, the most common forms of task-specific dystonia, BT is the
treatment of choice. However, for writers cramp one third to half of the patients are
not satisfied with BT therapy. For musicians cramps, with their excessive functional
demands, this percentage is higher. Oral antidystonic drugs are problematic owing to
weak and unpredictable effects and potentially severe adverse effects. In musicians
cramps, however, trihexyphenidyl is frequently used [36]. Adjuvant drugs, especially
anxiolytics, may be additionally helpful. DBS was tried in single cases with mixed
results. In this situation, rehabilitation is in high demand, especially in patients with
musicians dystonia when their ability to perform professionally is at stake.
Originally, it was thought that task-specific dystonia was a functional disorder, a
software problem triggered by overuse. Although overuse, especially under stressful
circumstances, seems to play a major role in the pathophysiology of task-specific
dystonia, it has become increasingly apparent that the pathological basis of task-
specific dystonia is not principally different from that of other forms of dystonia.
Still, the strong correlation with special motor programmes is intriguing and has
stimulated treatment with movement-modifying programmes.
Over many years of practical work with writers cramp patients, Bleton developed
a physiotherapy programme based on the concept of re-learning normal movements
by improving independence and the precision of individual finger and wrist
movements and training of antidystonic muscles by drawing loops, curves and ara-
besques [37]. Occupational therapy is even more widely used and employs a large
number of different strategies, including simple ones such as switching writing
hands, writing in print, using keyboards andwhere possiblespeech recognition
devices, changing to thick pens and pens with a non-slippery surface, altering the
pen-holding position [3841], attaching the pen to the hand through special devices
[4245], orthoses, using the wrist more than the fingers and optimising the sitting
position, general relaxation techniques [46, 47] and general avoidance of stress and
anxiety. Writing in private rather than in public may also avoid aggravating stress.
Switching the writing hand can be learned within 69 months. However, about half
of the patients will also develop writers cramp in the switched hand. Occupational
therapy seems to have an adjuvant effect on BT therapy [48]. Figure4.5 shows a
collection of modified pens to enable the patient to cope with writers cramp.
Fig. 4.4 Patients with task-specific dystonia. From: Dressler [74]
Additionally, there are numerous more complicated training programmes,

usually referred to as behavioural therapies. This term is used here to describe
re-learning processes and not psychotherapeutic techniques. Behavioural therapies
include biofeedback techniques [49, 50], often electromyography-based [5153],
habit reversal training [47, 54], constraint-induced motion therapy or sensory motor
retuning [55], general training exercises [41, 5658] and supinator writing practice
[40]. Transcranial magnetic brain stimulation has been used experimentally [59].
Fig. 4.5 Collection of modified pens to cope with writers cramp. Photo kindly provided by Mr
Arne Knutzen, Kiel, Germany
Musicians dystonia, especially in the forearm and the hand, is treated in a similar
manner to writers cramp. In musicians dystonia the demand for therapy is
enormous: most patients use rehabilitation including retraining (87%), hand therapy
(42%), relaxation techniques (38%), physiotherapy (30%), psychotherapy (23%),
acupuncture (21%) and various body techniques (21%) [36]. Of the patients, 81.5%
of them report subjective improvement, and around 50% are estimated to have
objective improvement [36].
Simple interventions include ergonomic changes at the instrument [60], changing
the grip or the position of the instrument. More complex occupational programmes
include behavioural programmes referred to as sensory motor retuning [55, 6163],
sensory training therapy [6467]), slow-down exercises [68], sensory re-education
[69], mixed treatment strategies [70, 71] and immobilisation programmes [72, 73].
Strategies for the prevention of musicians dystonia have been discussed. They
include more relaxed positions and stress avoidance. Interestingly, playing jazz
music rather than classical music bears a substantially lower risk of dystonia.
Non-focal Dystonia
Figure4.6 shows a patient with generalised dystonia after central nervous system
trauma. Primary treatment for non-focal dystonia depends on the severity and local-
isation of dystonia [3]. Recently, it was demonstrated that total BT doses can be
substantially higher than previously thought [74]. BT therapy can therefore be an
alternative in patients previously considered candidates for DBS.It should be
directed towards those symptoms generating the highest burden of disease for the
Fig. 4.6 Patient with generalised dystonia after central nervous system trauma
patients. In more severely affected patients and in patients with severe non-focal
dystonia DBS becomes the treatment of choice.
Rehabilitation of non-focal dystonia is focussed on those functions most relevant
to the patient. It may include use of the hands, walking, swallowing and positioning.
Devices to support these functions are frequently used.
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Rehabilitation ofAtaxia
5
MariseBuenoZonta, GiovanaDiaferia, JosLuizPedroso,
andHlioA.G.Teive
Introduction
Cerebellar ataxias represent an extensive group of heterogeneous diseases, charac-

terized by gait impairment and loss of balance, used related to cerebellar involve-
ment. There are several forms of cerebellar ataxias, including acute causes (for
instance, cerebellar stroke) or neurodegenerative disorders (such as hereditary atax-
ias). There is no effective treatment for the hereditary ataxias, and management
remains supportive and symptomatic. For acute cerebellar syndrome, rehabilitation
is mandatory. Rehabilitation process may lead to improvement in cerebellar symp-
toms and daily life functions, and must be included as a crucial treatment option for
the cerebellar ataxias.
Motor Rehabilitation
Rehabilitation is essential for all patients with ataxia. Any approach that includes
physical therapy can help to improve quality of life. Physical therapy should start
early at the diagnosis of ataxia, even in people with mild symptoms, such as spo-
radic imbalance. Therapy on the ground should consist of balance training and
therapists may suggest other practices that are complementary to the treatment pro-
gram. When people present with the early signs and symptoms of ataxia, they are
likely to engage in unsupervised activities in an attempt to minimize their symp-
toms. Guidance of a skilled professional is key at the beginning of any program to
M.B. Zonta, P.T., Ph.D. H.A.G. Teive, M.D., Ph.D.

Universidade Federal do Paran, Curitiba, PR, Brazil
G. Diaferia, S.L.P., M.Sc. J.L. Pedroso, M.D., Ph.D. (*)
e-mail: [email protected]; [email protected]

DOI10.1007/978-3-319-46062-8_5
84 M.B. Zonta et al.
incorporate activities that are suitable for these patients. In general, patients with
ataxia should be encouraged to exercise as part of health promotion, and as long as
risk factors and safety considerations have been assessed. Exercise should be tai-
lored individually and may involve exploring several different options for building
motivation, but patients with ataxia should be fully aware of the importance of
motor coordination and balance training.
Physical therapy should not be discontinued in advanced stages of disease in
dependent, bedridden people because passive/assisted mobilization and correct
positioning are essential at these stages to maintain the same level of residual activ-
ity, prevent pain and bedsores, and improve well-being. Over the course of the dis-
ease, management targets should be adjusted based on the patients health status and
needs taking into account individual characteristics, including age, interests, and
financial resources, among others.
Rehabilitation of patients with ataxia involves a thorough assessment to establish
the patients current level of functioning and to set up treatment goals and strategies.
Regular reassessments are also necessary to assess the effectiveness of the current
management and to identify any changes to the treatment plan that may be required [1].
Patients with ataxia have specific needs depending on their symptoms.
Individually tailored physical therapy strategies should be planned and incorporate
specific objectives and goals toward the highest possible level of functioning, with
continuous adjustments over time to minimize loss of function. Besides motor
coordination and balance training, other goals can be set, including increased
transfer and locomotion independence; muscle strengthening; increased physical
resilience; safe fall strategy; learning to use mobility aids (e.g., a walker); learn-
ing how to reduce the bodys energy expenditure; developing specific breathing
patterns; monitoring posture while sitting and standing; preventing and minimiz-
ing deformities and pain in people confined to a bed and/or wheelchair; and learn-
ing muscle relaxation exercises, among others [2]. Patient assessment can provide
objective information to guide the use of these therapy modalities or a combination
of different modalities.
In their review, Cassidy etal. [3] make recommendations on physical therapy
interventions, including dynamic task practices that challenge stability and explore
stability limits; combined strength and flexibility training; a compensatory approach
including orthotics and devices; teaching practical, everyday strategies for those with
severe upper extremity tremor; and careful documentation of patient outcomes.
A physical therapy plan should be prepared from the interpretation of the assess-
ment results and can vary depending on the type and characteristics of ataxia [1].
Recovery of motor function depends on the cause and the site of the cerebellar
injury [4]. Although approaches that improve proprioception and incorporate visual
aids are used more commonly in people with sensory ataxia, stabilization training is
more important to reduce truncal and extremity ataxia in people with cerebellar
ataxia. People with vestibular ataxia should be given habituation exercises to reduce
vertigo, and vestibulo-ocular and vestibulospinal reflexes should be stimulated to
improve balance. In some challenging cases, such as mixed ataxia, a number of
physical therapy interventions are required. When preparing a treatment plan, it
5 Rehabilitation ofAtaxia 85
should be kept in mind that the proprioceptive, vestibular, and visual systems and
the cerebellum are closely related, and that balance and coordination result from
this relationship [1]. These authors argue that the methods applied for the rehabilita-
tion of ataxia cannot be classified as approaches directed merely toward propriocep-
tion or balance, as all of these interact with each other.
Physical therapy techniques may vary depending on the approach used. An indi-
vidual treatment may consist of modalities on the ground (with or without equip-
ment), and/or in the water (hydrotherapy), and/or on a horse (equine therapy), and/
or virtual reality training. In a single exercise practice or therapy session they can
work stability, balance, strength, elongation, and motor coordination at the same
time as all these skills are interconnected.
Regarding motor recovery, two major issues have deserved attention in the reha-
bilitation of degenerative cerebellar diseases [5]. The first issue is whether motor
sequence learning or relearning of everyday tasks occurs, as the cerebellum plays a
crucial role in motor learning. The second one is whether gains in motor function
can be maintained over time given the progressive nature of these conditions. Ilg
etal. [4] contend that motor rehabilitation in people with cerebellar damage is chal-
lenging because the cerebellum plays an important role in motor learning and they
may have difficulty recovering function with physical therapy owing to damage to
structures critically involved in the relearning of motor skills.
In another review, Ilg etal. [4] looked at studies that assessed physical therapy
interventions for patients with cerebellar ataxia. These interventions included pro-
gressive stimulation on gait and balance for improved postural stability and less
dependence in daily life activities. The authors note that most studies comprised
heterogeneous, small samples, making it difficult to compare the methods of inter-
vention. They also cite the clinical studies by Ilg etal. [6] and Miyail etal. [5], both
large cohorts that systematically showed the benefits of motor rehabilitation in
patients with cerebellar degenerative diseases. Ilg etal. [7] found significant bene-
fits of intensive coordination and balance training that persisted over 12 months,
despite a gradual decline in motor performance due to progressive neurodegenera-
tive symptoms.
The finding that patients with ataxia can improve movement performance [6]
corroborated that seen in physical therapy practice. Therapists current challenge is
to find new ways to encourage patients to keep up with continuous training to pre-
serve their gains. Continuous coordination and balance training should be the stan-
dard of care; however, raising patient awareness and adjusting their daily routine are
required. An exercise program should take into account patient age, clinical fea-
tures, and prognosis. There are countless exercises available and a good therapist
should find new creative ways to keep patients interested and engaged.
The physical therapy approaches listed in a review study by Armutlu [1] are
designed for proprioception improvement, balance and stabilization training, and
vertigo and dizziness reduction. The author reviewed several studies on approaches
to improving proprioception that included techniques to increase proprioception
input through mechanical stimulation of articular surfaces, muscles, and tendons,
decreasing postural instability by improving body awareness. The techniques
include proprioceptive neuromuscular facilitation (PNF), mat activities, resistive

exercises, use of Johnstone pressure splints, gait exercises on different surfaces
(hard, soft, and inclined surfaces) with eyes open and closed, and vibration tech-
niques. They also included body awareness and balance activities. The authors of
the studies reviewed cited exercise disciplines such as Tai Chi and yoga. Proximal
stabilization and activities in different positions with movement progress from one
position to another were emphasized. These authors concur that the best indicator of
dynamic stabilization and balance is gait.
Frenkel exercises were also developed for the stimulation of proprioception.
Simon Frenkel (18601931) was a pioneer of neurorehabilitation and developed an
exercise program with various positions for improving motor coordination, balance,
and therefore ataxia. These exercises can be used in combination with PNF tech-
niques [8] and both are effective in mild cases of ataxia.
A variety of physical therapy techniques involves balance and proprioception
stimulation. The main principles of therapy are:
1. Keep the best posture for as long as the patient can. For example, people who are
able to walk or stand should maintain it for long enough. They should also be
encouraged to maintain a standing position as home practice (e.g., standing
while watching TV for a period every day, even if they need support). The focus
is to preserve their level of functioning: if a person is able to walk, she/he should
do it as much as possible. The order of exercises does not matter; it is important
to exercise as many positions as possible by using different mechanisms and
muscles, giving emphasis to the best posture.
2. Promote stability by using different positions and while progressing from one
position to another. Train both static postural stability and dynamic postural sta-
bility for every position. Mechanical stimulation of joint surfaces, muscles, and
tendons increases sensory and proprioceptive information on these body areas
and helps reduce instability.
3. In addition to balance and coordination exercises, muscle strength and stretching
exercises should be performed in every position. Some people may require
stretching exercises at the beginning of the therapy session, whereas others may
gradually change positions and progressively perform stretching exercises.
4. Balance training should be functional, i.e., people should practice functions in
the performance of daily tasks that require balance and proper posture. Improving
posture control will promote a maximum level of functional capacity; training
may help to reduce postural sway during movement.
5. As patients have to maintain an unbalanced position to train balance reactions,
these exercises should be performed safely and progress depending on their
symptoms. The degree of difficulty of an exercise should gradually be increased
using obstacles or provoking balance reactions to challenge them in a safe exer-
cise routine.
6. Strength training should use body weight exercises. Building muscle strength is
crucial, but care should be taken not to fatigue the muscles. It is important to
strengthen proximal shoulder and hip muscles to maintain the function of the
upper and lower extremities.
7. Exercises should be practiced consciously at first, and in later stages should be
followed by automatic exercise activities. Exercises should progress from simple
to complex within peoples functional level bearing in mind symptom progres-
sion. Some exercises should be practiced first with the eyes open and later with
the eyes closed.
8. A home practice program should incorporate other physical activities such as
sport activities to train components of basic skills in patients with ataxia. They
should be provided with support materials with pictures/drawings to guide their
home exercise routine [9].
Use ofVirtual Reality Applications
Intensive balance and motor coordination training can make people weary and be a
complex practice for children with ataxia especially those lacking motivation. A
major advantage of virtual reality is to motivate patients. The literature also reports
additional benefits including improved balance and posture, locomotion and gait,
and upper and lower extremity function [10, 11].
Many researchers point out the potential of virtual reality games as an effective
approach to improve motor skills and as a tool for assessing treatment effectiveness.
They have investigated a broad variety of therapeutic applications, especially for
motor and locomotor function rehabilitation in patients with neurological condi-
tions, and in patients with cognitive impairment. Ilg etal. [10] assessed the effec-
tiveness of using three X-Box videogame sets in children with ataxia. The children
underwent an 8-week training program (2weeks at the study site and 6 weeks in
their homes) specifically designed to improve motor coordination and balance. The
authors found that videogames reduced symptoms of ataxia, improved the chil-
drens ability to maintain good balance, and made the step-to-step transition while
walking safer and more effective.
Vestibular Rehabilitation Exercises
People with secondary, nongenetic, and hereditary degenerative ataxia have vestibu-
lar complaints in daily clinical practice that require treatment. Different vestibular
rehabilitation protocols are available and each has distinctive characteristics. The
CawthorneCooksey exercise protocol (1946) was designed to treat vestibular ataxia.
This exercise program is aimed at reducing vestibular disturbances, including vertigo,
vision changes during head motions, and balance and motor problems. It consists of a
series of head movements, body movements, and headeye coordination and balance
exercises performed in various positions where patients are instructed to perform the
exercises slowly at first, and then increasing speed. These exercises are intended to
improve the patients well-being while performing daily activities. In his review [1],
Armutlu cites some studies that show the use of many components of this exercise
program by physical therapists and occupational therapists.
Many protocols [12] are available to treat people with vestibular ataxia, in par-
ticular those using virtual reality applications. Virtual reality-based vestibular reha-
bilitation consists of interactive graphics creating a virtual reality experience [13].
The benefits of this treatment are reported in the literature and include balance and
posture alignment, improved mobility and upper and lower extremity function, and
increased motivation to exercise.
Vestibular rehabilitation exercises, either conventional or virtual reality-based
protocols, have the same goal of seeking to restore body balance, stimulating and
accelerating the natural mechanisms of vestibular compensation, and thus enhanc-
ing neuroplasticity in people with peripheral and/or central vestibular disorders.
The sole difference is the equipment used to achieve vestibular compensation.
Adding Extra Weight toExercises
Weighted anklets attached to lower extremities, vests to be worn on the trunk, belts
around the waist, cuffs, and adapted insoles to be placed in shoes can be used to add
extra weight to exercises. Better movement control is expected. A study by Dias
etal. [14] showed the effectiveness of adding extra weight to exercise to improve
static postural balance and dynamic postural balance, gait coordination, and func-
tional independence. This finding is corroborated by that reported by providers and
patients training with extra weights and suggests that this practice should be consid-
ered on an individual basis.
A few studies have investigated the effect of adding extra weight to exercise in
patients with ataxia. These investigations mostly involved small samples of low
quality and thus did not provide any strong evidence [15, 16]. In the review by
Cassidy etal. 3], the authors question adding extra weight when performing lower
extremity exercises. However, they recommend extra weight to control ataxia in the
wrist and hand, and build wrist strength to reduce tremors [17].
Adding extra weight can increase tremors and cause discomfort in patients with
ataxia. The need and indication for adding extra weight should be assessed on an
individual basis and require skilled supervision.
Sports Activities
In their review studies, Armutlu [1], Cassidy etal. [3], and Synofzik and Ilg [18] under-
line the importance of sports activities for balance and coordination training. In clinical
practice, patients with ataxia should be encouraged to be active, taking their prefer-
ences into consideration. While a daily 1-h exercise routine is realistic in research set-
tings because a timeframe is set for this activity, better adherence is likely with a weekly
program including different activities in clinical settings. Such a training program may
include sports/recreational activities based on peoples abilities and interests.
For many people with disabilities, adaptive sports are a way of reestablishing
contact with the outside world, and may prove motivating to patients with ataxia. A
number of sports activities (hiking, basketball, tennis, ping-pong, volleyball, bowl-
ing, swimming, darts, and golf, among others) can be adapted for patients with
ataxia. Other activities including Tai Chi, yoga, Qigong, dancing, and Pilates train-
ing offer challenging coordination and balance exercises and may motivate people
with playful and pleasurable movements. People at the early stage of the disease
who are able to go jogging or engage in their favorite sports without difficulty
should be encouraged to keep practicing for as long as possible.
Prospects forRehabilitation ofAtaxia
Currently, rehabilitation of ataxia basically involves physical therapy, occupational

therapy, and speech therapy [4]. Physical therapy not only plays a role in recovering
motor function, but also in helping to alleviate respiratory, urinary, ocular, and
orthopedic dysfunction that may accompany ataxia. Further investigations with
controlled studies and documentation of results are needed.
Recovery of motor function was the subject of a review study by Synofzik and Ilg
[18]. Encouraging results were reported that demonstrated that high-intensity motor
coordination training offers a significant benefit in patients with degenerative ataxia,
with gains in stability and motor coordination. The authors reviewed studies involving
both high-intensity therapy training (coordination and balance exercises) and con-
trolled videogame training (exergame training) and found a benefit corresponding to
the recovery of one or more years of the natural progression of the disease. Moreover,
they suggest that even people in the advanced stages of the disease can benefit from
this type of training. Note that in both types of training the effects seem related to the
frequency of exercises and maintenance of an ongoing exercise program.
This review study showed that improvements do not result from nonspecific
changes, but rather they reflect the recovery of dysfunctions that may accompany
ataxia. Even children with severe ataxia can be motivated to engage in a demanding
exercise program, as they recover their own movements and experience feelings of
success.
In light of the above, the authors introduced a new concept for ataxia training in
clinical practice drawing from the notion that rehabilitation in degenerative ataxia
should optimally resort to a large array of different training strategies that can be
individually tailored according to each individuals ataxia type, disease stage, and
personal training preferences.
As for clinical practice recommendations, they suggest different treatment
approaches according to the degree of patient involvement [18]. Patients at the very
early stages of ataxia should practice demanding sporting exercises that provide
great challenges to the coordination system. Real-world sports may be comple-
mented by demanding Xbox Kinect games. These games can be played on an elastic
mattress to increase the challenge. As people become more committed to the train-
ing program, the role of the physical therapist becomes increasingly important for
specific balance training and safety techniques, and games (Kinect games) should
be progressively adjusted in addition to any treatment [18].
In conclusion, physical therapy remains challenging for physicians and their
rehabilitation teams. They should bear in mind that published research findings are
based on means and medians and that it is important to note individual variations
among patients. Although the disease undoubtedly has an enormous impact on
patient outcomes, they are also dependent on peoples will to live, adherence to
treatment, the resources available, determination, willingness, and other nonrepro-
ducible individual characteristics.
Speech andVoice Therapy inAtaxia
Early symptoms of disease include muscle problems, walking and balance difficul-
ties, involuntary eye movements, and double vision. Different areas and/or func-
tions of the central and/or peripheral nervous system are marked by progressive
degeneration, including pathways involved with the motor control of speech and
swallowing. As disease progresses, communication skills and deglutition become
impaired, requiring the use of alternative resources. Speech therapy interventions
are aimed at treating changes in deglutition, as swallowing difficulty can cause aspi-
ration pneumonia in most cases [19].
Interventions targeting mechanical and functional components of deglutition and
speech articulation are most effective when these impairments are detected and
understood. Studies on changes in speech/voice and deglutition in MachadoJoseph
disease (MJD) are scarce, but Wolf etal. [20] investigated changes in speech and
voice in ten patients and found imprecise articulation with a slow rate of speech, a
hoarsebreathy voice quality, and decreased volume. The authors emphasize that
complaints involving communication may not be consistent with objective findings
in the clinical evaluation, and thus speech therapists must pay special attention to
patients expectations and communication skills. Difficulty in articulation due to
impairment of the neuromuscular control of speech is conventionally called dysar-
thria. The word derives from the Greek words dys+arthroun, meaning the inability
to utter distinctly [21]. However, owing to an association with phonation impair-
ment, dysarthrophonia is a more appropriate term.
Dysarthrophonia affects all aspects of speech, including resonance, articulation,
phonation, and respiration at different levels of severity and produces different
signs. It may be characterized by changes in speech production, emission, articula-
tion, voice, and prosody resulting from cerebellar injury. Gestures are slow, less
intense, and imprecise. MJD is characterized by different motor manifestations pro-
ducing different, poorly described speech and voice patterns.
Dysphagia, or difficulty swallowing, is present in neurodegenerative diseases and
is responsible for clinical complications including aspiration pneumonia, which is
the most common cause of death in these patients. Dysphagia affects quality of life
as it can cause nutritional disturbances, dehydration, lung conditions, and patients
may even suffer from a loss of pleasure from eating and social interactions.
Jardim etal. [22] evaluated 62 patients with MJD presenting with dysarthria, mus-
cle fasciculation, pyramidal syndrome, and ophthalmoplegia. They found that the ear-
lier the age of onset, the more severe the progression of MJD, and vice versa [23, 24].
Ataxia patients may have a normal or a hoarse, harsh voice with a strained,
strangled quality [25]. Vocal tremor is uncommon in ataxia, but may occur owing to
changes in laryngeal and respiratory muscles, and is characteristically irregular and
slow [26]. In a study on patients with MJD, Wolf [19] found the presence of a
hoarse, breathy, strained vocal quality, hypernasality, and little intraoral air pressure
in consonant production. Although the main feature of MJD is ataxia, changes in the
pyramidal, extrapyramidal, and peripheral nervous system may determine various
voice qualities. When extrapyramidal symptoms are predominant, voice character-
istics may be close to those of Parkinsons disease and include reduced volume,
monopitch, hoarseness, and a breathy voice quality. Monopitch is a typical feature
and is more frequent than highlow pitch variation [27]. Pitch fluctuation in ataxic
dysarthria is produced by impaired cerebellar control of the proprioceptive circuit
mediated by extracerebellar structures in both laryngeal and respiratory muscles
[28]. According to the literature, resonance changes in ataxic dysarthria are uncom-
mon and hyponasality may occur because of impaired temporal control of the soft
palate contraction [29]. However, according to Theodoro etal. [30], the rate of
hypernasality is high in dysarthria (95%). The study by Wolf [19] showed that dys-
arthria in patients with MJD is closer to mixed than to ataxic dysarthria.
Theodoro etal. [30] evaluated 20 subjects with ataxic dysarthria using perceptual
and acoustic analysis methods and reported a high rate of hypernasality (95%).
Another study by Kent etal. [31] evaluated 14 subjects with ataxic dysarthria to
determine which features of the disorder were most consistent, which speaking
tasks were most sensitive to the disorder, and whether the different speech produc-
tion subsystems were uniformly affected. Perceptual and acoustic data were
obtained for several speaking tasks, including sustained vowel phonation, syllable
repetition, sentence recitation, and conversation. The most frequent abnormality for
both male and female subjects was the variability of the fundamental frequency,
followed by shimmer and jitter (short-term frequency and amplitude perturbation).
Jitter was more pronounced among females. The syllable alternating motion rate
(AMR) was typically slow and irregular. The energy maxima and minima were
highly variable across repeated syllables, which reflects poorly coordinated respira-
tory function and inadequate articulatory and voicing control. Syllable rates tended
to be slower for sentence recitation and conversation than for AMR.Conversational
samples varied considerably in intelligibility and number of words/morphemes in a
breath group among subjects. Qualitative analyses of unintelligible episodes in con-
versation showed that these samples generally had a well-defined syllable pattern.
Schalling etal. [32] evaluated 21 subjects who had spinocerebellar ataxia with mild
to moderate dysarthria and 21 controls. Those with ataxic dysarthria demonstrated
strained phonation, imprecise consonants, vocal instability, monotony, and a
reduced speech rate of syllables per second in repeated syllables. The acoustic anal-
ysis showed reduced a reading rate of syllables per second, repetition of syllables,
long syllables, and variation in breaks. The authors recommend both acoustic and
perceptual analyses for evaluating ataxic individuals.
The study by Wolf [19] reported changes in five prosodic items and rhythm,
reduced stress, prolonged intervals, and inadequate breaks. Hence, it is important to
assess sound duration. Casper etal. [33] studied subjects with cerebellar ataxia and
found significant changes in prosodic items compared with the control group, in
addition to changes in sound duration. Spencer and Slocomb [34] reported that
patients with cerebellar damage present with abnormal speech articulation and pros-
ody. Regarding speech articulation, patients with MJD show imprecise articulation,
prolongation, repetition, interruptions between sounds, distortion of vowels, and an
irregular and slow rate of repetition of syllables [19]. Portnoy and Aronson [35]
investigated three groups of 30 subjects each: a normal group; a group with ataxic
dysarthria; and a group with spastic dysarthria. Using a computer, they measured by
a diadochokinetic syllable rate for /p/, /t/, and /k/. The normal group showed syllable
rates per second of 6.4 for /p/, 6.1 for /t/, and 5.7 for /k/. Subjects with ataxic dysar-
thria showed rates of 3.8, 3.9, and 3.4, and those with spastic dysarthria showed rates
of 4.6, 4.2, and 3.5 respectively. The slow rate of repetition in the ataxic subjects and
the significantly more variable rhythm of repetition in the spastic subjects were unex-
pected findings and are in contrast to results from perceptual analysis. The study
demonstrates that slowness of syllable repetition is not restricted to spastic dysarthria
and that dysrhythmia of syllable repetition is not restricted to ataxic dysarthria. They
point to the importance of operationalizing measurements. Padovani etal. [36] com-
pared normal subjects with individuals with neurological disorders and reported sta-
tistically significant differences in the production of all syllables. Diadochokinesia
was increasingly different in the two groups as sound production moved from the
outermost articulatory point, i.e., the bilabial phoneme, to the innermost point, i.e.,
the larynx. The articulatory and laryngeal diadochokinesia test proved to be sensitive
to differentiating the normal group from the subjects with dysarthria. It underscores
the importance of incorporating this test into speechlanguage evaluation protocols
to look for neuromotor integrity abnormalities and help differential diagnosis and
monitoring of progressive diseases, especially in patients with laryngeal dystonia,
amyotrophic lateral sclerosis, bulbar symptoms, and ataxia.
Several studies have investigated diadochokinesia, as it involves consecutive
articulatory movements, and the ability to perform rapid repetitions of simple
speech segments is an indicator of sound speed of articulatory movements and
points of articulation. It is thus a neurological skill test that shows the adequacy of
neuromotor maturation and integration [37].
Dysphagia is common in individuals with MJD; however, few studies have inves-
tigated its occurrence. An epidemiological, clinical, and pathological study reported
that dysphagia occurs from year 8 of disease onset in 70% of patients and that from
year 15 it becomes moderate or severe and may cause death from tracheobronchial
aspiration, bronchopneumonia, or malnutrition because of the difficulty swallowing
[38]. Younger age is associated with earlier and more severe symptoms of voice,
speech, and swallowing problems [20]. Patients with degenerative ataxia have
greater difficulty swallowing liquids than solid foods, and penetration is significantly
higher for liquids than solid foods. Greater difficulty swallowing liquids may be due
to a delayed swallowing response and liquids may either reach the epiglottis before
it closes or inundate the epiglottis before the movement is complete [39].
Studies have suggested that a delayed swallow reflex [40] might result in
decreased pharyngeal contraction movements and reduced glottal efficiency, i.e.,
stasis of food in the valleculae and piriform sinuses, in addition to the risk of pene-
tration and aspiration. In a study of 33 patients with MJD, Wolf [19] found that
increased food viscosity and volume was related to greater stasis of food, especially
in the valleculae and piriform sinuses. Posterior intraoral escape of food was only
significantly higher when examined by increasing liquid viscosity from 3mL of
liquid to 3mL of honey. Wolf also observed stasis of food in the valleculae with
3mL of honey and a posterior escape of 5mL of honey, with values close to 1.0 (not
significant). In addition, laryngeal penetration was statistically significant with
increased viscosity from honey to pudding, which suggests difficulties with the
motor control of the laryngeal musculature with poor airway protection. Abnormal
oral motor control in subjects with MJD explains the increased swallowing diffi-
culty of larger bolus volumes and increased bolus viscosity, which increases the
stasis of food and episodes of penetration, as the swallowing process depends on a
pump mechanism, according to Costa [41].
Despite the scarcity of investigations into swallowing in patients with MJD, the
studies available have reported greater difficulty experienced swallowing liquids
than solids [39]. Contrasting with findings by Rb etal. [23] of gradual improve-
ment in swallowing with increased bolus viscosity, Wolf [19] showed worsening of
symptoms as the bolus volume and viscosity increased. Abnormal oral motor con-
trol of greater bolus volume and viscosity probably causes premature escape of food
[41, 42]. Another study by Diafria etal. [43] reported the main findings of fiber
optic endoscopic evaluation of swallowing (FEES) in patients with MJD, including
stasis in the piriform sinuses and posterior pharyngeal wall, stasis in the valleculae
after ingestion of paste-like food with a thick consistency, residue on the tongue
base, and stasis in the posterior pharyngeal wall after ingestion of thickened liquids.
They did not find penetration and tracheolaryngeal aspiration before or after swal-
lowing across all consistencies. Patients with MJD show abnormalities of the oral
and pharyngeal stages of swallowing owing to oral motor control impairment, mak-
ing it difficult to swallow high bolus volumes and viscosities in the oral cavity, and
thus increasing food stasis. Endoscopy swallow images have been shown to be an
effective tool in the diagnosis of oropharyngeal dysphagia in patients with MJD.
Drawing on these findings, it can be assumed that increased bolus viscosity and
volume have a less significant effect on oral motor control in patients with
MJD.Further studies on speech articulation and swallowing may improve our
knowledge on this chronic progressive disease so that patients can maintain com-
munication as far as possible at every stage of their disease, in addition to preserving
social interaction and increasing swallowing safety to prevent complications such
as aspiration and malnutrition.
Quality of life and longevity of patients with ataxia depends on the appropriate
treatment of motor symptoms and continuous multidisciplinary monitoring by a
team composed of a physical therapist, a speech therapist, a psychologist, and an
occupational therapist. In particular, long-term speechlanguage therapy may result
in language improvement.
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Rehabilitation inEssential Tremor
6
MariaElizaFreitas andRenatoP.Munhoz
Introduction
Essential tremor (ET) is one of the most prevalent disorders in neurology, affecting
0.40.9% in the general population of all ages, reaching even higher prevalence
with advancing age, ranging from 4.6 to 6.3% for individuals above 65 years old
[1]. Although the term benign ET was historically used to describe it as a mono-
symptomatic disorder with no pathological changes on brain tissue examination, it
is not unusual to observe cases in which the progressive and potentially disabling
nature of ET is evident, leading to significant disability and affecting quality of life
with prominent interference with activities of daily living. In addition, there is
heated debate about the validity and caveats of a series of recent studies highlighting
the possible pathological changes in addition to a high prevalence of nonmotor
symptoms and imaging abnormalities. Another recent development in the under-
standing of this field is the general concept that the entity as a single disease may
not exist and what we refer to as ET is in fact the phenomenological expression of a
series of different disorders [2, 3].
In spite of controversies and significant developments, treatment remains limited
and includes pharmacotherapy, surgery and nonpharmacological therapy. The focus
of this review is to discuss non-pharmacological therapies, mostly related to
rehabilitation.
M.E. Freitas, M.D. R.P. Munhoz, M.D., Ph.D. (*)

Morton and Gloria Shulman Movement Disorders Centre and the Edmond J.Safra Program
in Parkinsons Disease, Toronto Western Hospital, University of Toronto,
Toronto, ON, Canada

DOI10.1007/978-3-319-46062-8_6
98 M.E. Freitas and R.P. Munhoz
Clinical Features ofET
The phenomenological hallmark of ET, as its designation suggests, is the postural

and kinetic tremor of the upper extremities present in up to 95% of cases. However,
any body part can be affected, including more commonly the head (30%), lower
extremities (1015%), and voice (20%), in the vast majority of cases in combina-
tion [4]. The two most consistent risk factors for ET are age and a family history of
tremor. In spite of 50% of the affected individuals presenting a positive family
history, the objective identification of genes related to increased susceptibility and
monozygotic forms of ET has been difficult [5]. Recent studies have linked LINGO1,
FUS, and TENM4 genes with a higher risk of developing ET; however, further stud-
ies are needed to confirm their pathogenicity [6].
As mentioned above, in recent years, studies have shown that individuals with
ET may develop nonmotor symptoms, such as cognitive deficits, depression, anxi-
ety, balance disorder, hearing impairment, olfactory dysfunction, and sleep prob-
lems with a significant impact on quality of life [7]. Again, these topics and studies
are currently a matter of heated debate among experts in the field.
The same observation is valid for pathological changes in ET.These findings in
the central nervous system include a reduction in cerebellar Purkinje cells and
restricted Lewy bodies in the locus ceruleus in a limited number of autopsied cases
[8]. Brain imaging also shows changes in the cerebellum. A recent study using func-
tional MRI and EEG showed an association between tremor and activity in the
ipsilateral cerebellum and contralateral thalamus [9]. However, pathological and
imaging changes are still a matter of controversy in the literature.
Pharmacological andSurgical Therapies
Pharmacological Approach
Oral pharmacotherapy in ET comprises different medications, including beta-

blockers, anticonvulsants (primidone and topiramate), and benzodiazepines.
Treatment may bring varying degrees of improvement in tremor severity in approxi-
mately 50% of the patients, although this proportion diminishes as the disease pro-
gresses to more severe stages [10]. In general, treatment choice is based on the
degree of psychological, social, and functional disability, and according to the gen-
eral health status, as all pharmacological choices carry a significant risk of inducing
adverse effects.
First-line therapy agents include propranolol and primidone. Propranolol is a
nonselective -adrenergic receptor antagonist and is the only pharmacotherapy
approved through the US Food and Drug Administration (FDA). Initial doses of
20mg twice a day are usually recommended (10mg, twice a day in elderly patients).
Doses can be titrated up to 60320mg/day. Common side effects are bradycardia
and bronchospasm. Primidone is an anticonvulsant drug and the initial dose is
50mg at bedtime (25mg in elderly patients). Typical maintenance daily dose is
6 Rehabilitation inEssential Tremor 99
250750mg/day. The most frequent side effects are somnolence and dizziness.
Second-line therapies include benzodiazepines (i.e., alprazolam), gabapentin, pre-
gabalin, and topiramate.
Botulinum toxin type A (BTXA) has been proven to be effective in ET patients
with tremors of the upper extremities [4]. Furthermore, BTXA is also effective in
ET patients with head and voice tremors.
Essential tremor is classically marked by alcohol responsiveness. Ethanol
improves tremor at relatively low levels, usually within 20min for 35h, sometimes
followed by a rebound tremor augmentation [11]. Alcohol provides reduction in
tremor amplitude, but not frequency. Given the significant improvement in tremors,
alcohol addiction needs to be monitored in ET patients.
Surgical Approach
Deep brain stimulation (DBS) is the surgical treatment recommended for patients
with disabling ETs. In 1997, the FDA approved DBS as a treatment for ET [12].
The ventrolateral thalamus and the posterior subthalamic area (PSA) are the typi-
cal targets for DBS in ET.Compared with unilateral implants, bilateral implants
significantly reduce tremors; however, with a higher risk of side effects from
stimulation (balance and posture). The effect is safe, with effects that are quite
significant and long-lasting in most cases [13]. Thalamotomy is a surgical option
that is equally as effective for refractory tremors in ET patients, but is limited
because of an increased relative risk of adverse effects, especially with bilateral
surgery.
Nonpharmacological Therapy andRehabilitation
Although symptoms of ET may be controlled with medication or surgical interven-

tions, it is of interest to explore and employ additional forms of therapy to assist
with functionality. As already summarized, both medications and surgical interven-
tions have several potential side effects and may not provide the best benefits in
terms of overall motor function. Therefore, rehabilitation is in the pipeline not only
for ET, but for most chronic neurological conditions. The interventions described
below should typically be used in parallel with other forms of treatment or as the
sole intervention.
Tremor
Resistance Training
The resistance training (RT) program is an exercise intervention consisting of
sessions of biceps curl, wrist flexion, and wrist extension movements performed
with both limbs with sets of repetitions. Exercises may be performed with loads.
A preliminary study reported that fine manual dexterity and upper limb strength
were improved in ET patients after an RT program [14]. The findings of this
preliminary study provided initial evidence that RT is worthy of further investi-
gation as a therapy for improving functionality in ET patients.
A recent study investigated whether a generalized upper limb RT program
improves manual dexterity and reduces force tremor in older individuals with ET
[15]. Ten ET patients and 9 controls were recruited to participate in a 6-week pro-
gram of upper-limb RT.A battery of manual dexterity and isometric force tremor
assessments were performed before and after the RT to determine the benefits of the
program. The 6-week, high-load, RT program produced strength increases in each
limb for the ET and healthy older group. These changes in strength were associated
with improvements in manual dexterity and tremor, particularly in the ET group.
The least affected limb and the most affected limb exhibited similar improvements
in functional assessments of manual dexterity, whereas reductions in force tremor
amplitude following the RT program were restricted to the most affected limb of the
ET group. These findings suggest that a generalized upper limb RT program has the
potential to improve aspects of manual dexterity and reduce force tremor in older
ET patients.
Inertial Loading
Inertial loading has been postulated to have an effect on the strength of motor unit
training and the synergistic/competitive interaction between central and mechanical
reflex tremor components in individuals with ET.A research study recruited 23
patients with ET and 22 controls and first defined the one-repetition maximum
(1-RM) load, which is the maximal load that can be successfully lifted (wrist exten-
sors) through the full range of motion [16]. Subsequently, the participants were
asked to hold their hand in an outstretched position while supporting sub-maximal
loads (no-load, 5, 15, and 25% of 1-RM). Hand postural tremor and wrist extensor
neuromuscular activity (electromyography [EMG]) were recorded. Results showed
that inertial loading resulted in a reduction in postural tremor in all ET patients. The
largest reduction in tremor amplitude occurred at between 5 and 15% loads, which
were associated with spectral separation of the mechanical reflex and central tremor
components in a large number of ET subjects. Despite an increase in overall neuro-
muscular activity with inertial loading, EMG tremor spectral power did not increase
with loading. The authors concluded that the effect of inertial loading on postural
tremor amplitude appears to be mediated in large part by its effect on the interaction
between the mechanical reflex and central tremor components.
Dexterity Training
Another technique that has been evaluated is exercise involving fine dexterity. A
recent study evaluated the effect of a short-term dexterity training (DT) program on
muscle tremor and the performance of hand precision tasks in patients with ET [17].
The study consisted of three testing sessions: baseline, after 4 weeks without any
interventions (control), and after 4 weeks of a DT program carried out 3 times per
week. Eight patients with ET were recruited and the training program consisted of
12 dexterity training sessions, each session comprising four tasks, involving both
goal-directed manual movements and hand postural exercises. ET-specific quality
of life questionnaires and postural and kinetic tremor assessments were performed.
Results showed improvements in the performance of the two goal-directed tasks
(P<0.01); however, postural and kinetic tremors did not change. The authors con-
cluded that DT could be effective in increasing fine manual control during goal-
directed movements, but no changes in tremor severity were seen. The authors also
claimed that one limitation might be the short training program (4weeks) and train-
ing programs taking place over a longer period of time may be of greater benefit.
ranscutaneous Electric Nerve Stimulation

T
Transcutaneous electrical nerve stimulation (TENS) is currently used for analgesia
in a broad range of medical conditions, such as peripheral nerve lesions, angina,
dysmenorrhea, labor and delivery, osteoarticular diseases, burns, and some types of
postoperative pain [18]. Despite its widespread clinical use, the physiological
mechanism of action is not known, stimulating parameters are subjective, electrode
placement is empirical, and most of all, its effectiveness is a subject of controversy.
Regardless of these uncertainties, the use of TENS has been reported to be effective
in anecdotal reports of cases with certain movement disorders, including
ET.Unfortunately, the only study performed using standard objective methodology
in 5 patients with ET and 2 with peripheral tremor, did not reveal any significant
improvement in the tremor scale scores after TENS, nor did it show any statistically
significant difference in the amplitudes of the accelerometer tracings [19].
Massage
A recent study examined the influence of massage therapy on the severity of ET
using an activity-based rating scale pre- and post-treatment [20]. The study con-
sisted of five consecutive weekly sessions. The subject, a 63-year-old woman, indi-
cated her hands and head to be the primary areas affected by ET.The treatment aim
was to reduce sympathetic nervous system firing; therefore, the massage techniques
implemented were based on relaxation. Methods included Swedish massage, hydro-
therapy, myofascial release, diaphragmatic breathing, remedial exercise education
and affirmative symptom management recommendations. Drawings of an
Archimedes spiral for comparison pre- and post-treatment provided an objective,
visual representation of tremor intensity affecting fine motor control. Goniometric
measurements were taken to mark changes in cervical range of motion. Results
revealed that tremor intensity decreased after each session, demonstrated by
improved fine motor skills. The client also reported increased functionality in the
cervical range of motion, which was documented during the first and last visits. The
authors suggested that tremors in ET might be related to symptomatic activity and
can be reduced by initiatives that encourage a parasympathetic response. Therefore,
massage therapy would be a valuable method of treatment for ET.However, the
study only examined 1 patient and tremor severity can present in an irregular pattern
owing to subjective individual triggers. Further controlled research studies are
required to lessen the variability between subjects and to validate these findings.
Gait
Essential tremor is marked by kinetic, postural, and intention tremors; however,

many studies have suggested an underlying dysfunction of the cerebellum or cere-
bellar system causing gait and balance problems. Older age (>70years) was consis-
tently found to increase the risk of balance and gait disturbances in ET [21].
Louis etal. [22] studied the functional aspects of gait in patients with ET, placing
their findings within the context of two other neurological disorders, Parkinsons
disease and dystonia, and comparing them with age-matched controls. The authors
administered the six-item Activities of Balance Confidence (ABC-6) Scale, which
is a self-administered questionnaire that scores the level of confidence in perform-
ing different activities, such as standing on tiptoes to reach for an object, or walking
outside on icy sidewalks, without losing balance or becoming unsteady. They also
collected data on the number of falls and near-falls, and the use of walking aids in
422 participants (126 with ET, 77 with PD, 46 with dystonia, and 173 controls).
Results showed that balance confidence was lowest in PD, intermediate in ET, and
relatively preserved in dystonia compared with controls. The number of near-falls
and falls followed a similar ordering. Use of canes, walkers, and wheelchairs was
elevated in ET and even greater in PD.The authors concluded that lower balance
confidence, increased number of falls, and a greater need for walking aids are vari-
ably features of patients with range of movement disorder compared with age-
matched controls. Although most marked among PD patients, these issues affected
ET patients and, to a small degree, some patients with dystonia.
A recent study compared timing control of gait in ET patients versus controls,
and further assessed the association of these timing impairments with tremor sever-
ity among the ET patients [23]. One hundred and fifty-five ET patients and 60 age-
matched controls underwent a comprehensive neurological assessment and gait
analysis, which included walking at a criterion step frequency (cadence) with a
metronome (timing production) and walking at a criterion step frequency after the
metronome was turned off (timing reproduction). Outcomes of interest for both
conditions were timing accuracy (measured by cadence error) and timing precision
(measured by cadence variability). Results showed that cadence was lower in ET
patients than in controls (P<0.03), whereas step time was similar for ET patients
and controls. Accuracy (cadence error) and precision (cadence variability) were not
different in ET patients compared with controls. Cranial tremor score was signifi-
cantly associated with cadence (timing production condition, P=0.003, and timing
reproduction condition, P=0.0001) and cadence error (timing production condition,
P=0.01). Kinetic tremor and intention tremor scores were not associated with gait
measures. The study concluded that ET patients do not demonstrate impairments in
the timing of gait control compared with matched controls, in keeping with the
hypothesis that the cerebellum might be important for timing the control of discrete
rather than continuous movements.
It is well recognized that ET patients have gait and balance impairment [24];
however, most of the studies published on nonpharmacological approaches involve
patients with PD, only revealing a gap in the literature in terms of treatment of ET
gait disorders. Unmet needs in this field include randomized studies comparing ET
patients and matched controls to assess the impact of physiotherapy and rehabilita-
tion on gait and balance disorders in patients with ET.
References
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Rehabilitation inChorea
7
DboraMaia andFranciscoCardoso
Introduction
The term chorea derives from the Greek word choreia, which means dance, and
is used to define a syndrome characterized by involuntary movements that are brief,
abrupt, unpredictable and nonrhythmic, resulting from a continuous flow of random
muscle contractions.
Causes of chorea may be categorized by etiology into genetic and acquired, with
significant implications for management and prognosis. Regardless of its cause
(Table7.1) [1], the two types has similar common features and many patients pres-
ent with functional disability in addition to dysphagia, dysarthria, and impairment
of gait and balance. The purpose of rehabilitation is to tackle these functional
impairments .
The aim of this chapter is to provide an overview of rehabilitation in the most
frequent forms of non-Huntingtons chorea. It is important to emphasize that most
of the information provided herein is based on the personal experience of the authors
as there is a paucity of data in the field. The strategy we have followed in the chapter
is to start with a succinct description of general aspects of each specific cause of
chorea, followed by discussion of rehabilitation.
D. Maia, M.D., M.Sc. F. Cardoso, M.D., Ph.D., F.A.A.N. (*)

Movement Disorders Unit, Neurology Service, The Federal University
of Minas Gerais, Belo Horizonte, MG, Brazil

DOI10.1007/978-3-319-46062-8_7
106 D. Maia and F. Cardoso
Table 7.1 Causes of chorea (adapted with permission from Cardoso [1])
Inherited Autosomal dominant HD
HDL-1, HDL-2, HDL-4/SCA17
Spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA7, SCA8,
SCA14, SCA17, SCA27 (van Gaalen 2011)
DRPLA
Neuroferritinopathy
BHC
ADCY5-related dyskinesia
C9ORF72
GLUT1 deficiency
POLG (may be autosomal dominant or recessive)
PRRT2 mutations
Autosomal recessive Chorea-acanthocytosis
Friedreichs ataxia
Wilsons disease
AOA 1 and 2
PKAN
Ataxiatelangiectasia
POLG
Inborn errors of metabolism (e.g., phenylketonuria, glutaric
acidemia type I, methylglutaconic aciduria type III)
X-linked recessive McLeod neuro-acanthocytosis
LeschNyhan syndrome
Rett syndrome
Mitochondrial Leigh syndrome
Lactic acidosis and stroke-like episodes (MELAS)
Leber hereditary optic neuropathy (Morimoto 2004)
Acquired Vascular/hypoxic-ischemic Stroke
injury Post-pump chorea
Perinatal hypoxic injury
Polycythemia vera
Immune-mediated Sydenhams chorea
Systemic lupus erythematosus, Sjgrens syndrome
Antiphospholipid antibody syndrome
Chorea gravidarum
Oral contraceptives
Immune encephalopathies (anti-LGI1, CASPR2 and NMDA
receptor antibodies)
Celiac disease
Metabolic disorders Nonketotic hyperglycemia
Hyperthyroidism
Hypoparathyroidism
Uremia
Paraneoplastic Renal, small cell, lung, breast, Hodgkins lymphoma,
non-Hodgkins lymphoma
Infective HIV
Syphilis
Mycoplasma
Legionella
Varicella
Herpes simplex
Drugs/toxins Mercury
Cocaine
Amphetamines
Idiopathic
7 Rehabilitation inChorea 107
Genetic Chorea
Neuro-acanthocytosis
Neuro-acanthocytosis is a genetically and phenotypically heterogeneous group of

disorders that includes chorea-acanthocytosis and McLeod syndrome [2]. Chorea-
acanthocytosis is a rare autosomal recessive disorder caused by mutations in the
VPS13A gene on chromosome 9q21, which encodes the protein chorein. The dis-
ease typically presents in adulthood, with a mean age of 30 years, and rarely before
the age of 20 or after the age of 50 years. Chorea acanthocytosis is relentlessly
progressive, and sufferers may develop significant disability within a few years [3].
Affected individuals develop a mixed movement disorder, typically involving
chorea and dystonia, and occasionally Parkinsonism later in the course of the dis-
ease, in addition to other neurological features such as seizures, neuropathy, and
myopathy [2, 4]. The chorea in chorea-acanthocytosis is generalized, affecting the
limbs, face, and trunk, and often interferes with ambulation, causing frequent falls.
Co-existing dystonia is often present. There may be prominent oral involvement,
and the presence of feeding-related tongue dystonia or self-mutilatory mouth move-
ments, often appearing early in the course of the disease, provide a useful clue to the
diagnosis [5]. Head drop and axial extension have also been reported to be charac-
teristic features in advanced disease [6]. Cognitive and behavioral disturbances are
seen in the majority of affected individuals [2] and neuropsychiatric symptoms may
precede the onset of the movement disorder [7].
McLeod neuro-acanthocytosis syndrome is an X-linked recessive disorder,
caused by mutations in the XK gene located at Xp21.1, which encodes an antigen
of the Kell blood group [7]. Affected males manifest a progressive chorea syn-
drome, in addition to cognitive and behavioral disturbances. Reports of heterozy-
gous females manifesting chorea and cognitive disturbance have also been identified
[2]. Similar to chorea-acanthocytosis, seizures and subclinical neuromuscular dis-
ease are also present. The chorea is generalized and often interferes with ambulation
with frequent falls. Hematologically, the McLeod blood group phenotype is charac-
terized by absent expression of the Kx erythrocyte antigen and reduced expression
of the Kell blood group antigen, leading to acanthocytosis and compensated hemo-
lysis. In contrast to those with chorea-acanthocytosis, affected individuals may also
develop dilated cardiomyopathy and arrhythmias, with a risk of sudden cardiac
death.
Wilsons Disease
Wilsons disease is an autosomal recessive disorder caused by mutations in the

ATP7B gene on chromosome 13q14.3, which encodes for a copper transporting
P-type transmembrane ATPase [8]. The age at onset ranges from early childhood to
the sixth decade of life, with a mean age of onset between 15 and 21 years. The
majority of affected individuals are dysarthric, with varying spastic, ataxic,
hypokinetic, and dystonic components to their speech. Neurological Wilsons dis-

ease may present with dystonia, tremor or parkinsonism, or a combination of move-
ment disorders. Chorea has been reported in 616% of cases, and tends to accompany
other neurological manifestations.
Benign Hereditary Chorea
Benign hereditary chorea (BHC) is classically caused by autosomal dominant muta-

tions in the NKX2.1 (TITF1) gene, located on the long arm of chromosome 14 [9].
There is a slight female preponderance, with a male to female ratio of 0.70 [10].
Usually, affected individuals develop generalized chorea with onset during early
childhood, with a median age of 2.53 years, although onset from infancy to late
childhood and adolescence has also been described [11]. Chorea is worsened with
stress, and improves during sleep. There is often a history of decreased muscle in
the first year of life, in addition to delayed motor milestones, particularly with walk-
ing. The chorea tends to improve up until puberty or early adulthood, before stabi-
lizing during adulthood [10]. Infrequently, there may be a complete resolution of
chorea. Associated movement disorders have also been described, including myoc-
lonus, dystonia, tics, and drop attacks. In some cases, as chorea improves with age,
myoclonus becomes the main disabling symptom in adulthood. Dysarthria has also
been reported [12]. Nonmotor features are additionally associated with BHC, and
include learning difficulties, which were observed in 20 out of 28 individuals in one
series [10], and attention deficit hyperactivity disorder (ADHD). Cerebral imaging
in BHC is typically normal.
The mutation in ADCY5, the gene described in 2001 and linked to familial dys-
kinesia with facial myokymia, has been reported in patients with a phenotype of
BHC.In general, patients present with hyperkinetic movements, mainly chorea and
dystonia, but also other forms of dyskinesia. Quite often, they have preserved cogni-
tion and no other major neurological features. In contrast to BHC cases secondary
to NKX2-1 mutations, patients with ADCY5 mutation may show significant pro-
gression of symptoms until adulthood. Facial myokymia, cardiac heart failure, more
prominent dystonic posturing, and even cognitive decline may occur in ADCY5-
related disorder [13].
C9orf72 Disease
C9orf72 disease is an autosomal dominant condition caused by an expanded hexa-

nucleotide repeat in the C9orf72 gene. This was originally described in a Finnish
and a European cohort [14] and in a family of Irish descent [15] with familial fron-
totemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
This is considered the most common genetic cause of FTLD-ALSC9orf72 disease
is an autosomal dominant condition caused by an expanded hexanucleotide repeat
in the C9orf72 gene. This was originally described in a Finnish and European cohort
[14] and a family of Irish descent [15] with familial frontotemporal lobar degenera-
tion (FTLD) and amyotrophic lateral sclerosis (ALS). This is considered the most
common genetic cause of FTLD-ALS.
In a large Huntingtons disease (HD) phenocopy cohort [16], the mean age of
onset was 42.7 years. Affected individuals manifested chorea, dystonia, myoclonus,
tremor, and parkinsonism. Upper motor neuron signs were also present in some
affected individuals. Executive dysfunction was common, and psychiatric and
behavioral problems tended to occur early. No clear differences in the size of the
expanded hexanucleotide repeat have been identified to account for the varied phe-
notypic presentations of C9orf72 disease. Incomplete penetrance has been described
and generalized atrophy may be observed on MRI.
DRPLA
An autosomal dominant disorder, DRPLA is caused by an expanded CAG repeat in

the DRPLA gene (atrophin 1) located on chromosome 12p13.31 [17]. Anticipation
is a feature of DRPLA, with intergenerational expansion typically associated with
paternal transmission. The normal repeat range is 825, whereas the reported range
in affected individuals is from 49 to 88 [18]. DRPLA occurs more commonly in
Japan, where the prevalence is estimated to be 0.207 per 100,000 [19]. It is very
rare in other ethnic populations.
The age at onset ranges from the first to the seventh decade [17]. The clinical
features of DRPLA vary according to the age of onset, with striking differences
between the juvenile and adult-onset forms. The juvenile form of the disease, with
age at onset before 20 years, is characterized by a progressive myoclonus epilepsy
phenotype, with myoclonus, epilepsy, and mental retardation. In contrast, adult-
onset DRPLA progresses more slowly, with varying degrees of ataxia, choreo-
athetosis, and subcortical dementia. Epilepsy and myoclonus do not tend to occur.
Nongenetic Chorea
Nongenetic forms of chorea are a group of heterogeneous conditions that may

include chorea at any moment during the course of the disease. Table7.1 also shows
a comprehensive list of causes of acquired chorea. Because of their frequency, the
most important etiologies are vascular and immunological disorders.
Cerebrovascular disease is the most common cause of nongenetic chorea in
adults, accounting for 50% of cases [20]. However, chorea is an unusual complica-
tion of acute vascular lesions, seen in less than 1% of patients with acute stroke.
Vascular hemichorea or hemiballism (severe chorea) is usually related to ischemic
or hemorrhagic lesions of the basal ganglia and adjacent white matter in the territory
of the middle or the posterior cerebral arteries. Although spontaneous remission is
the rule, in a few patients, the movement disorder may persist and treatment with
antichoreic drugs, such as neuroleptics or dopamine depleters, may be necessary in
the acute phase.
Sydenhams chorea (SC) is the most common form of autoimmune chorea. In

fact, it is the most common cause of acute chorea in children worldwide. SC is a
major feature of acute rheumatic fever, an autoimmune disease related to previous
infection with group A beta-hemolytic Streptococcus [21]. Clinically, SC is charac-
terized by a combination of chorea, other movement disorders, behavioral abnor-
malities, difficulties in verbal fluency and in verbal comprehension, and cognitive
changes [2224]. Oliveira etal. [25] demonstrated that patients with acute SC have
an impairment of modulation of the voice and longer duration of emission of sen-
tences, resulting in a monotone and slow speech. This pattern is similar to that
described in other basal ganglia illnesses, such as Parkinsons disease and
Huntingtons disease.
Other immunological causes of chorea are systemic lupus erythematosus (SLE),
primary antiphospholipid antibody syndrome, vasculitis, and paraneoplastic syn-
dromes. SLE and antiphospholipid antibody syndrome are classically described as
the prototypes of autoimmune chorea [26]. However, several reports show that cho-
rea is seen in no more than 1% to 2% of large series of patients with these conditions
[2729]. Autoimmune chorea has rarely been reported in the context of paraneo-
plastic syndromes associated with CV2/CRMP5 antibodies in patients with small-
cell lung carcinoma or malignant thymoma [30].
Rehabilitation
Dysarthria
Dysarthria is often a disabling problem in genetic chorea and less so in individuals

with vascular chorea. In these cases speech therapy is of benefit. Unfortunately, in
degenerative chorea there is a relentless progression with patients with advanced
disease commonly becoming anarthric. In immunological and other forms of
acquired chorea, dysarthria is usually mild and self-limited and does not require
specific therapeutic measures.
Dysphagia
Dysphagia is a significant problem in neuro-acanthocytosis, Wilsons disease, phe-

nocopies of HD, and other degenerative causes of non-HD chorea. In the early
stages of these conditions, speech therapy may benefit patients with dysphagia [2].
Clinical experience suggests that these measures might decrease the likelihood of
aspiration pneumonia, but published data to support this assumption are lacking.
Unfortunately, given the progressive nature of these conditions, there is a relentless
worsening of dysphagia, with many patients becoming unable to swallow. In these
circumstances, there is an indication for the use of gastrostomy. Despite the wide-
spread belief that this procedure prevents aspiration pneumonia, there is inconclu-
sive evidence to support this conclusion.
A task-specific dystonia with protrusion of the tongue pushing food out of the
mouth is a cause of quite specific chewing and swallowing problems in up to 50% of
patients with chorea-acanthocytosis. In these cases, the use of a mechanical device
such a stick to reduce biting and tooth-grinding can be helpful and avoid teeth having
to be removed [3]. Botulinum toxin injections into the genioglossus may reduce
tongue protrusion and improve feeding and speech as well [3]. In patients with brux-
ism, botulinum toxin in the masseter and temporal muscles can also be helpful.
Malnutrition
Chorea patients with severe dysphagia may develop malnutrition. It is therefore

necessary to carefully monitor the nutritional status of these individuals and nutri-
tionists should be part of the multidisciplinary team caring for these patients. As
already discussed in the section on dysphagia, at end-stage degenerative chorea,
many patients require gastrostomy to maintain proper nutrition and possibly reduce
the risk of aspiration pneumonia.
Gait Disturbance andPostural Instability
In 2005, Danek and Walker described the importance of physical therapy in improv-
ing gait and balance in patients with neuro-acanthocytosis. However, not only in this
condition but also in chorea in general, there are no specific protocols. As in other
progressive disorders, physiotherapy is frequently directed toward maintaining or
retraining personal independence: reach to grasp movement, bed mobility, transfers,
and walking. When mobility becomes further compromised, assistive devices for
walking may become necessary. Unfortunately, in degenerative conditions associ-
ated with chorea, there is a steady and relentless progression, with patients becom-
ing wheelchair bound and, later in the course of the disease, confined to bed.
There are no specific data in the literature about the role of physical therapy in
immunological chorea. As a matter of fact, in the experience of the authors, with the
exception of bilateral vascular hemiballismhemichorea and chorea paralytica, a
rare form of SC, physical therapy is not necessary in acquired chorea. Of note, phys-
iotherapy is required to avoid spasticity and improve gait and balance in patients
with hemiparesis in vascular chorea.
Conclusion
Because of the rarity of these conditions, all reports of therapies are anecdotal, and
no controlled clinical trials have been performed. Treatment for most of the symp-
toms of nongenetic chorea syndromes is based upon empirical evidence from
patients with other conditions such as Huntingtons disease. There are, however,
some reports that suggest that a multi-disciplinary approach might improve func-
tional disturbances.
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Huntingtons Disease
8
MonicaSantoroHaddad, TamineTeixeiradaCostaCapato,
andMarianaJardimAzambuja
Introduction
Huntingtons disease (HD) is a genetic neurodegenerative disease with autosomal

dominant inheritance characterized by chorea, cognitive, and behavioral impair-
ments [1]. HD is caused by an expanded CAG trinucleotide repeat in the HTT gene
[2]. Although chorea is the main type of involuntary movement and usually presents
during any phase of the disease, other motor impairments appear, such as dystonia,
bradykinesia, rigidity, and balance disturbances [3]. The general aspect of the HD
gait is the enlarged basis with balance and movements up and down, which are
responsible for causing frequent falls in 60% of the patients [4]. HD-related cogni-
tive deficits include processing speed, set-switching, sequencing, and distractibility,
suggesting that the basal ganglia might play a role in many cognitive functions tra-
ditionally attributed to the frontal cortex [5].
Many pharmacological therapies have been evaluated; however, positive phar-
macological results are still scanty; thus few treatment options are available [6, 7].
A few studies attempted to address the question as to which aspects of motor
M.S. Haddad, M.D., M.Sc. (*)

Department of Neurology, Hospital das Clinicas da Faculdade de Medicina
da Universidade So Paulo, So Paulo, Brazil
e-mail: [email protected]; [email protected]
T.T. daCostaCapato, P.T., M.Sc.
Department of Physical Therapy, Hospital das Clnicas da Faculdade de Medicina
da Universidade de So Paulo, So Paulo, Brazil
M.J. Azambuja, S.L.P., M.Sc.
Department of Neurology, Hospital das Clinicas da Faculdade de Medicina da
Universidade de So Paulo, So Paulo, Brazil

DOI10.1007/978-3-319-46062-8_8
116 M.S. Haddad et al.
function improve when chorea is reduced with tetrabenazine or other antichoreic

treatments [8]. Studies suggest that globus pallidus internus (GPi) deep brain stimu-
lation (DBS) might be a potential therapeutic option in patients with refractory cho-
rea, but few cases with long-term effects have been reported in the literature
[911].
Death occurs after 1520 years of the disease, usually because of trauma related
to falls or infections related to dysphagia. Therefore, physical therapy and speech
therapy are extremely important in avoiding these events.
This chapter reviews the main physical and speech therapy strategies that can
improve quality of life of HD patients.
Physical Therapy
Even with the ideal medical and surgical treatment, HD patients still present prob-
lems with functional activities, gait and balance. Nevertheless, there are some sug-
gestions that physiotherapy treatment might improve functional disturbances of the
basal ganglia motor circuit. However, the mechanisms by which improvement
occurs remain unexplained.
Main Goals ofPhysical Therapy
The main goals of physical therapy targeting HD can be divided into four different
stages: pre-manifest, early stage, mid stage, and late stage.
Pre-manifest Stage
A person who has an unfavorable genetic test for the HD, but has not yet devel-
oped any clinical signs of HD is considered to be pre-manifest. Mild gait changes
can be observed in pre-manifest individuals, including decreased gait velocity
and stride length; increased double support time; and increased variability in
stride length and step time compared with controls [12]. In a multicenter, pro-
spective, observational study involving a total of eight sites, test measures of
functional abilities and physical impairments were proposed in 81 people with
pre-manifest and manifest HD.The preliminary results showed that specific
measures may be appropriate for HD, and the tools may be useful to assessing
individuals in the pre-manifest stage [13].
Even in the absence of any specific motor impairment limitation, the patients
should be encouraged to undergo a specific evaluation with a physiotherapist spe-
cializing in movement disorders, and test the influence of cognitive issues on func-
tional activities. All these physical interventions may include support the
maintenance of an independent exercise program; however, the evidence is not
strong and little is known about the dosage, frequency, and intensity at that stage.
8 Huntingtons Disease 117
Early Stage
At the early stage, there may be progression of cognitive deficits such as memory,
planning, problem-solving, organizing, new learning, and attention. A mild postural
instability and falls may occur in early and mid-stages of HD, and the mean inci-
dence is approximately 5860%. The patients cannot report the numbers of falls
exactly and the circumstances under which these falls occurred were due to the
progression of cognitive impairments [4]. The balance impairments may be multi-
factorial such as the correct sequencing of postural responses, delays in initiation,
and prolonged anticipatory postural adjustments [14], deficits in adapting the pos-
tural response to change task demands and environment and response to chorea,
increased postural sway, impaired cognitive function and behavior, and reduced
ability to maintain postural stability during dual tasks [4].
Altered musculoskeletal alignment, which may be associated with chorea and
dystonia, disorders of the integration of sensory information, including dependence
on proprioceptive cues rather than on visual cues. Lower-limb muscle weakness and
reduced activity [15] are other factors. The side effects of some medications and
environmental hazards may also contribute to the high incidence of falls [16].
Individuals with HD have been found to have a reduction in the quality of func-
tional manual activities caused by chorea, bradykinesia, and difficulties in move-
ment sequencing [17].
Gait impairments could be marked by a gait bradykinesia, the disorder of loco-
motor timing demonstrated by increased difficulty in the ability to regulate cadence
and an increased variability of stepping rates. The timing disorder in HD may be the
result of a dysfunction of the basal ganglia cueing mechanism that signals the sup-
plementary motor areas to prepare the next movement in the sequence [18].
The slower stepping response time (STR) in HD may become slower gait, pro-
longed reaction time, and slower movement time of the upper extremity, and a lon-
ger reaction time and reduction in speed of the first step of ambulation in people
with HD are consistent with bradykinesia being a feature of HD.In an investigation,
the authors showed that deficits in SRT were associated with impairments on clini-
cal measures of balance, mobility, and motor performance, including a subjective
measure related to balance and confidence. The correlation suggested that in people
with HD, slower response times might be associated with lower balance confidence
during performance of common daily activities. Good correlations were found
between SRT and clinical measures, such as timed up & go (TUG) and tandem walk
tests, highlighting associations between SRT and gait-related performance mea-
sures. The slower SRT was associated with poorer performance on the TUG and the
tandem walk tests. The results showed that SRT may be a valid and objective marker
of disease progression [19].
The assessment of motor functions may be required; thus, in some studies evalu-
ation is performed using a specific test proposed by the Guideline for Huntingtons
Disease [20] and others showed the importance of determining the efficacy of minimal
detectable changes on measures before and after physical therapy interventions [21].
This evaluation should be carried out by a physical therapist specialized in neurol-

ogy and movement disorders. This guideline can provide a general framework for
physical therapy intervention for impairments that can have an impact on the func-
tional activity and life participation of people with HD [20].
Gait retraining strategies for people with HD, therefore, need to target disorders
of both footstep timing and amplitude [18]. There were a few exercise protocols
aimed at people with HD.They suggest some strategies for training gait [22], func-
tional activities [23, 24], and multi-sensory stimulation [25]. There are no specific
balance protocols for HD; thus, we suggest the Parkinsons disease protocols,
because they may be very useful for implementing the dosage, frequency, and inten-
sity of the physical therapy sessions [26].
Aerobic exercises (walkingtreadmill and over-ground, jogging, swimming,
and stationary bicycling) are recommended in a frequency of 35 times a week, in
an intensity of 6585% of the maximal heart rate. Exergaming, Yoga, Pilates, Tai
Chi, and relaxation are also suggested [20].
Exercise adherence in this population decreases after professional supervision
stops and patients no longer receive external support or feedback about their prog-
ress [17, 27]. There is clearly a need to develop methods that facilitate patients and
caregivers engagement in and adherence to an exercise program.
The benefits of regular physical activity for people with HD are widely recog-
nized. Although regular and sustained physical activity has the potential to benefit
patients with neurodegenerative conditions such as HD, there are a number of
disease-specific factors that make it particularly challenging to establish regular
exercise in this population. For that reason, it is important to support engagement in
physical activity in people with Huntingtons disease with a study protocol for a
randomized controlled feasibility trial [28].
Mid Stage
During the mid-stage of HD, involuntary movements such as chorea increase, dys-
tonic postures (e.g., torticollis, opisthotonus, and arching of the feet) may be present
and voluntary motor tasks may become increasingly difficult. People have balance
and gait deficits, including increased variability in gait parameters (e.g., stride time
and length, double support time) [12], that result in frequent falls [15]. Contributing
factors may include bradykinesia of gait, stride variability, and chorea in addition to
cognitive and behavioral issues [4]. People may also frequently drop objects that
they are holding in their hands because of motor impersistence. Motor skill learning
is also often impaired at this stage, resulting in difficulties learning new tasks or
sequences [29].
The chorea or hypokinesia rigidity are characteristics that are independent pre-
dictors of both cognitive and general functioning, with choreatic patients func-
tioning significantly better. The hypokinetic HD subtypes are associated with
poorer functioning than the hyperkinetic. It is possible that choreatic subjects are
falsely assigned to the hypokinetic rigid group because of medication-induced
hypokinesia [30].
As the disease progresses, physiotherapy is frequently directed toward main-

taining or retraining the reach to grasp movement, bed mobility, transfers, and
walking. When mobility becomes further compromised, wheelchair prescription
and training in wheelchair use may become a priority. In a systematic review, the
overall aim of physical therapy in the mild stage was to facilitate independence in
activities of daily life and optimize participation in family, work, and leisure. These
aims may be achieved through an education, specific advice on safety and risk
management, modification of activities or environments, or the provision of assis-
tive devices such as adaptive eating utensils or wheelchairs. Despite the potential
for allied health professionals to assist people with HD, therapies are not always
provided [31].
The gait disorders in HD include reduction in speed due to a decreased step
length and cadence, an increased base of support, and an increased variability of
step length, swing, and double-limb support time [12]. People with HD may have
difficulty turning and with gait in dual tasks, and delays in gait initiation (akinesia)
[29] resulting in a loss of independence in walking.
Training people with HD to allocate their attention effectively while carrying out
tasks when walking may also be beneficial [25]. Patients have difficulty synchroniz-
ing their stepping to a cue, and there is inconsistency in the literature as to whether
the cues result in short-term improvements in cadence, step, and stride length [29,
32]. The prescription of gait aids may be useful for people with HD, but the diffi-
culty with allocating attention to a dual task and difficulty controlling the gait aid if
chorea is severe could be a problem [20].
At this stage there will probably be impairment of the respiratory function and
capacity, resulting in limitations in endurance and restrictions in functional activi-
ties [21].
At-home visits are important to assess the patients functional abilities and their
home environment. Recommendations for equipment or modifications are made to
optimize independence and safety educating the person and her family about
changes and the consequent impact on function may be useful.
ate Stages ofHD

L
In the later stages people with HD frequently require assistance to complete basic
bathing, grooming, dressing, mobility, and eating tasks [31]; the complications may
include muscle contracture, pain and skin breakdowns because of the abnormal
position associated with dystonia and rigidity. If there is a risk of aspiration, the
physiotherapist will work closely with the speech pathologist to teach the person
how to clear sputum and cough effectively [16].
Aspiration pneumonia could occur and respiratory dysfunctions may worsen.
There is a decrease in exercise tolerance and the ability to perform functional activi-
ties such as ambulation. It is important to implement positioning that promotes safe
swallowing, prevents secondary impairments of muscle contracture and skin break-
downs. Specialized seating, wheelchairs and hoists for transfers may need to be
prescribed in the late stages of the disease [20]. Caregivers should be trained to
assist with airway clearance techniques such as deep breathing, postural position-
ing, and supported coughing, which can be taught to the family and other staff who
may be caring for the person with HD [16].
In the late stages of the disease, caregivers may find that they cannot provide the
required care at home and residential care may be required. Predictors for requiring
institutional care include reduced capacity to complete activities of daily living and
poor motor function [33].
In conclusion, there is very little evidence evaluating the efficacy of physiother-
apy, randomized control studies in the published literature for reducing impairment
or increasing activity and participation in people with HD.There is evidence, how-
ever, that exercise may be useful in addressing specific impairments in people who
are not severely affected by HD.A specialized multidisciplinary team is useful for
identifying a program of treatment at all stages of HD.
Speech andLanguage Therapy inHuntingtons Disease
Disorders of speech, language, and swallowing, are found in different degrees of man-
ifestation in the course of Huntingtons disease (HD). They are caused by motor, cog-
nitive and behavioral changes, which in different combinations, can have an impact on
communication and the feeding of patients. Basal ganglia degeneration, especially of
the striatum, is the characteristic neuropathological finding in HD. These structures
have long been known for their role in normal voluntary movement and also for caus-
ing movement disorders when damaged. However, dysfunctions in this area have also
been related to different cognitive and behavioral functions, including learning, lan-
guage, and social behavior [34, 35], because of its numerous connections with several
cortical areas, especially the frontal lobe. Thus, in HD, extensive symptomatology is
present, including motor, cognitive, and behavioral findings.
Among the motor manifestations of HD, dysarthria is a very characteristic symp-
tom, which appears early in the course of the disease. It refers to changes in speech,
caused by a disturbance in muscle control, which affects the motor bases of speech:
respiration, phonation, articulation, prosody (melody and accentuation of speech),
and resonance.
In HD, the changes in speech are the result of excessive involuntary movements
that disturb the rate and quality of motor activities involved in speech production,
featuring a hyperkinetic dysarthria pattern. According to Darley etal. [36], its main
manifestation is the prosodic disorder, which may be characterized either by pro-
sodic excess, with prolonged intervals, inappropriate pauses, and excessive accen-
tuation of words, or prosodic insufficiency, with monopitch and monoloudness,
reduced word stress, and use of short sentences. Patients with HD also have other
speech characteristics, namely:
Irregular articulation production, fast-moving and tension during phonation

Vowel and consonant distortions
Phonatory instability, with excessive variation of fundamental frequency

Tense-strangled or rough voice quality
Excessive variation in vocal intensity
Prolonged phonemes
Poor respiratory support for the production of speech, sometimes with apparent
respiratory incoordination
In addition to speech impairments, individuals with HD have manifested changes

in language comprehension and production, in its various aspects, even in the pres-
ymptomatic phase of Huntingtons disease [3740].
Some common findings in the early stages of HD are changes in spontaneous
speech, with loss of conversational initiative and dysarthria [41]. At this stage, how-
ever, speech problems, in most cases, do not cause limitations in communication
ability. As the disease develops, changes are described related to the reduction of the
syntactic complexity of oral production [4245], lexico-semantic deficits [46],
visual naming difficulties [47, 48], and verbal comprehension deficits [43, 49, 50].
Changes in phonological and semantic verbal fluency tests are also observed [51
55]. In patients with more advanced cognitive changes, vague conversational style
is observed, with reduced content.
It is important to note that language and communication difficulties are strongly
linked with global cognitive impairment, which affects more clearly, in the early
stages of the disease, the functions related to the frontostriatal system [41, 56].
Thus, problems are also seen in attentional and executive functions, working
memory, problem-solving, visualspatial perceptual processing, and arithmetic
[37, 38, 46, 54, 57]. As the condition develops, the neuropsychological changes
that affect patients fit the profile of subcortical dementia first described by Albert
etal. [58], with overall slowness of intellectual activities, forgetfulness, personal-
ity changes (apathy, depression, irritability), and difficulty in manipulating
acquired knowledge.
The main changes found include:
Loss of conversational initiative and reduced spontaneous language production

Difficulty in starting and maintainiing a topic of conversation
Perseverence with ideas
Reduced phrase length and message complexity
Difficulty with lexical access
Difficulty in maintaining face-to-face conversation, which requires integrated
information processing
Inability to pay attention to a speakers signs and to recognize facial expressions,
changes in tone of voice, and ambiguity
Difficulty in understanding abstract, complex concepts
Difficulty in organizing thoughts, learning and retaining new information
Slow information processing
Impaired auditory attention, concentration, and motivation
In HD, swallowing disruptions usually occur in the later stages of the disease, in
which several aspects may be impaired (oral, pharyngeal, and esophageal phases),
caused by the presence of involuntary movements that affect the muscles involved
in the feeding function [59].
Dysphagia may be defined as any disruption in the eating process, from the oral
cavity to the stomach [60].
In HD, swallowing disruptions usually occur in the later stages of the disease, in
which several aspects may be impaired (oral, pharyngeal, and esophageal phases),
caused by the presence of involuntary movements which affect the muscles involved
in the feeding function [61].
In the oral phase, irregular, uncoordinated tongue movements may make it dif-
ficult to chew and control the food in the oral cavity, leading to premature spilling
on the base of the tongue before a swallow reflex is triggered, increasing the risk of
food aspiration. The lip seal is often ineffective and there are oral residues after
swallowing.
In the pharyngeal phase, irregular movements and poor coordination of the vocal
folds and the respiratory muscles, in addition to postural changes (hyperextension
of the neck), may impair the airway defense mechanisms. Patients also manifest
changes in pharyngeal peristalsis and esophageal motility. Multiple swallows, pha-
ryngeal residue, coughing, choking, changes in vocal pattern, and reduced satura-
tion during or after swallowing are also found.
Other frequent symptoms of HD are eating too fast, sudden lingual movement,
respiratory chorea (involuntary respiratory movements while swallowing), eructa-
tion, aerophagia, and airway penetration of food.
Therapy for speech and language disorders is aimed at improving functional
communication, in addition to intelligibility and naturalness of speech, which are
aspects related to vocal intensity and/or articulation precision and to the rate of
speech and/or prosodic patterns respectively [62]. Dysphagia treatment enables effi-
cient, safe oral intake.
Current literature shows that even degenerative diseases can benefit from appro-
priate guidance and selections of behavioral techniques and physiological
approaches in the management of patients, including relieving symptoms, espe-
cially if the intervention is multidisciplinary. Regarding HD, there are literature
reviews that make broad recommendations on the best approach to speech therapy
for these patients. However, we can make use of established methods, techniques,
and strategies to control symptoms and maintain communication and oral intake for
as long as possible.
It is important to note that to establish the best therapeutic direction, it is neces-
sary to carry out an assessment, which will allow understanding of the symptoms,
both from a motor and a functional perspective. The examination must focus on
the oral sensorymotor system and neurovegetative functionsbreathing chew-
ing, and swallowingin addition to phonation, articulation, and resonance. A
detailed analysis of swallowing is of fundamental importance and for that, in
addition to the evaluation of the oral sensorymotor system, patients must go
through a functional assessment with food. When necessary, the clinical
evaluation must be associated with additional tests, such as endoscopic evaluation

of swallowing and videofluoroscopy. We found several protocols in the literature
to assess dysarthria and dysphagia, some of which are specific to HD, such as the
Huntingtons Disease Dysphagia Scale [63]. Whenever necessary, cognitive defi-
cits may be characterized through specific language and neuropsychological
examination. The Unified Huntingtons Disease Rating Scale (UHDRS), which
investigates not only motor functions, but also behavioral functions, cognitive
abnormalities, and functional capacity, can be used to assess the patients cogni-
tive status and progression over time [64].
In general, speech therapy with emphasis on the phonoarticulatory, is aimed at
increasing articulatory precision, improving prosody, and reducing phonatory and
respiratory instability. As the presence of chorea movements can vary, there may be
periods of speech intelligibility, which tends to worsen as choreic movements
increase, affecting the muscles of respiration, phonation, and articulation.
Regarding respiratory issues, pneumophonoarticulatory coordination exercises
are used to improve awareness of the relationship between breathing and speaking,
and also to practice inspiration and expiration control, which is related to vocal
output and speech. It also seeks to train the maintenance of vocal quality and inten-
sity, in addition to pauses (breathing and phonation), which are responsible for per-
formance of good prosody. The oral airflow direction techniques and emissions in
maximum phonation time also help to reduce the perception of hypernasality, which
may occur in some cases.
When there is glottal hyperadduction, the usually tense strangled vocal quality is
reduced through relaxation techniques focusing on the laryngeal muscles and using
softer vocal attacks [65]. Among the therapeutic approaches that have been used, we
can highlight the masticatory method [66], the yawnsigh technique, and tongue
popping with nasal sounds. The sigh may be used along with the production of lax
vowels and words and phrases starting with vowels [62]. Chant talk techniques and
exercises of voiceless fricatives followed by voiced fricatives in association with
words and phrases may also be applied. Supporting sounds in ascending and
descending scales and musical scales may be interesting for promoting more varia-
tions in speech frequency and intensity.
Regarding articulatory training, exercises can be performed to improve the
amplitude of movement of patients orofacial structures, especially the lips and
tongue, also using over-articulation techniques. In hyperkinetic dysarthrophonia
cases, plosive consonants are often uttered instead of fricatives and voiceless sounds
because of the hypercontraction of the vocal folds [65]. Therefore, it may be neces-
sary to practice points and manners of articulation of different phonemes, especially
plosives and fricatives, depending on which distortions manifest in patients.
Regarding changes in speaking rate, in addition to practicing prosody, therapists
may work with metronomes or hand-clapping to pace the exercises, also producing
or reading words, phrases, and paragraphs stressing the tonic syllable or working
with different intonations and melodies (imperative, declarative, and interrogative
sentences; practicing excitement, surprise, and sadness indicators, among others).
During exercises, it is interesting that the patient can monitor his/her production
through auditory and visual training, with recordings of his speech and mirror use,
if he/she feels comfortable.
Speech and language therapy is also aimed at stimulating cognitive skills, espe-
cially language, through activities involving attention, concentration, reasoning,
reading and writing, and interpretation. This can be accomplished through board
games, computer games, paper-and-pencil activities, and reading and discussing
books, in addition to constantly encouraging discursive production. Activities that
require recognition, judgment, comparison, categorization, association, analysis
and decision-making, logic, and problem-solving also improve thinking skills and
stimulate language production. Therapists may also encourage verbal fluency and
lexical access skills, which are usually impaired by executive loss. In more severe
cases, the use of supplementary and alternative communication, such as printed
alphabet and boards with pictures, should be encouraged.
The therapeutic approach to oropharyngeal dysphagia has the goal of stabilizing
swallowing, maintaining the patients nutritional status and pleasure of eating, in
addition to preserving their lungs. To accomplish this, therapists carry out direct and
indirect work.
Indirect therapy is conducted through exercises aiming to stimulate the oropha-
ryngeal structures that take part in swallowing dynamics, improving motility, mus-
cle tone, and sensitivity, and improving oral motor control. Direct therapy involves
training with food, performing adjustments regarding consistency (such as adding
thickeners to liquids), volume, speed, and other methods, including the use of
adapted utensils and environmental control during feeding. Therapy also includes
postural maneuvers, such as tilting the head down, and facilitating maneuvers, such
as the Mendelsohn maneuver, voluntary coughing, swallowing with effort, and mul-
tiple swallows, which improve airway protection during swallowing and help to
clean the pharyngeal recess.
It is important to highlight that patients with preserved cognition respond better
to therapy, and therefore the treatment should start in the early stages of the disease,
so that they can learn and automate appropriate behaviors and compensatory strate-
gies for feeding and swallowing.
The choice of treatment depends on the stage and the difficulties the patient is
presenting. Montagut etal. [67] suggest a rehabilitation program that includes oro-
lingualmandibular praxias, in addition to the training of strategies and postural
changes.
Oral feeding should be maintained for as long as compensations and adaptations
are possible. Once the therapist detects risks in offering food via oral intake, alterna-
tive feeding methods should be considered. In these cases, enteral nutrition is usu-
ally the preferred method. A nasogastric tube may be used in the short term, whereas
for long-term treatment percutaneous endoscopic gastrostomy is the more fre-
quently recommended method [59]. It is important to highlight that feeding care is
not restricted to preventing bronchoaspiration, it is also intended to ensure that
patients receive appropriate nutrition and hydration. In the case of reduced food
intake, or when oral feeding is contraindicated, medical and nutritional counseling

are necessary to ensure better decision-making and conduct.
It should be pointed out that training caregivers is also part of the therapeutic
process, as they become increasingly responsible for establishing communication
and managing or offering food to patients, once the disease starts to worsen. Their
guidance is an important part of the therapeutic process, in addition to adaptation
and environmental control (such as reducing distractions during communication
and feeding, and using external cues to encourage swallowing).
It should also be pointed out that the type of intervention, both in dysphagia and
in relation to speech and language, depends on what stage the HD patient is at and
the nonlinguistic deficits associated with it whether motor, cognitive, or psychi-
atric. The combination of symptoms is what makes each patient manifest unique
characteristics, which influence the type of strategy that should be adopted.
Additionally, because HD is a progressive disease, it is possible that at some point
rehabilitation techniques will only have a limited impact. Therapists should be able
to identify that point, reformulating the goals of treatment as the disease progresses
and always trying to alleviate the current problems and anticipate future problems,
for better adaptation of patients and their families.
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Movement Disorders inPediatrics
9
MarceloMasruhaRodrigues andMarianaCallilVoos
Introduction
Pediatric movement disorders (MDs) is a relatively new and growing field of child
neurology. Although hypokinetic disorders such as Parkinsons disease predominate
in adults, children more commonly demonstrate hyperkinetic disorders, such as tics,
tremor, chorea, and dystonia [1]. Furthermore, MDs in children differ from those in
adults in many other aspects. Perhaps the most important is that MDs in childhood
are primarily symptoms of other diseases, rather than diseases in themselves [2].
The terminology of MDs has been well defined for adults, but less so for chil-
dren. Therefore, it is likely that MDs are under-reported in children, and that there
is inconsistent terminology. Recently, there have been attempts to provide specific
definitions of childhood motor disorders (Table9.1) [35].
According to these definitions, childhood disorders can be divided into three
major categories: hypertonic disorders, hyperkinetic disorders, and negative signs.
Hypertonic disorders include spasticity, dystonia, and rigidity. Hyperkinetic disor-
ders encompass chorea, dystonia, athetosis, myoclonus, tremor, stereotypies, and
tics. Negative signs consist of weakness, reduced selective motor control, ataxia,
apraxia, and developmental dyspraxia, although these are not discussed here [2].
In adult MDs, it is frequently helpful to divide disorders into primary and sec-
ondary disorders, although there is no consistent definition of these terms. Many
authors refer to disorders as primary if there is only a single dominant symptom, and
the underlying cause is presumably genetic or an identified gene. However, the
M.M. Rodrigues, M.D., Ph.D. (*)

Division of Child Neurology, Universidade Federal de So Paulo, So Paulo, Brazil
M.C. Voos, P.T., Ph.D.
Department of Physical Therapy, Faculdade de Medicina da Universidade

DOI10.1007/978-3-319-46062-8_9
130 M.M. Rodrigues and M.C. Voos
Table 9.1 Terminology of pediatric movement disorders [35]

Hypertonia: abnormally increased resistance to externally imposed movement about a joint. It
may be caused by spasticity, dystonia, rigidity, or a combination of features
Spasticity: a velocity-dependent resistance of a muscle to stretch. One or both of the following
signs may be present:
1.Resistance to externally imposed movement increases with increasing speed of the
stretch and varies with the direction of joint movement, and/or
2.Resistance to externally imposed movement rises rapidly above a threshold speed or
joint angle
Dystonia: a movement disorder in which involuntarily sustained or intermittent muscle
contractions cause twisting and repetitive movements, abnormal postures, or both
Rigidity: hypertonia in which all of the following are true:
1.The resistance to externally imposed joint movement is present at a very low speed, and
does not exhibit a speed or angle threshold
2.Simultaneous co-contraction of agonists and antagonists may occur, and this is reflected
in an immediate resistance to a reversal of the direction of movement about a joint
3. The limb does not tend to return toward a particular fixed posture or extreme joint angle
4.Voluntary activity in distant muscle groups does not lead to involuntary movements
about the rigid joints, although rigidity may worsen
Chorea: an ongoing random-appearing sequence of one or more discrete involuntary
movements or movement fragments
Athetosis: a slow, continuous, involuntary writhing movement that prevents maintenance of a
stable posture
Myoclonus: a sequence of repeated, often nonrhythmic, brief shock-like jerks due to sudden
involuntary contraction or relaxation of one or more muscles
Tremor: a rhythmic back-and-forth or oscillating involuntary movement about a joint axis
Tics: repeated, individually recognizable, intermittent movements or movement fragments that
are almost briefly suppressible and are usually associated with an awareness of an urge to
perform the movement
Stereotypies: repetitive, simple movements that can be voluntarily suppressed
existence of a single symptom in childhood MDs is probably the exception rather

than the rule [2].
As this is a book that deals with rehabilitation of MDs, we discuss the disorders
that are of interest in pediatrics: cerebral palsy and dystonia.
Cerebral Palsy
The term cerebral palsy constitutes a useful socio-medical framework for certain
motor disabled children with special needs. However, it does not describe a single
disease entity but rather a collection of disorders with different etiologies [6].
Cerebral palsy (CP) is defined as a group of disorders of the development of
movement and posture, causing activity limitation, that are attributed to non-
progressive disturbances that occurred in the developing fetal or infant brain [7].
Virtually all such disturbances occur during or before early infancy. Although tone
and postural abnormalities may become more pronounced during early childhood,
9 Movement Disorders inPediatrics 131
qualitative evolution is uncommon. The full extent of motor disability may not be
evident until the age of 3 or 4 years [8]. Intellectual, sensory, and behavioral diffi-
culties may accompany CP, and are especially common in patients with spastic
quadriplegia and severe motor disability [9].
Children with CP often exhibit mental retardation (52%), hearing impairment
(12%), and speech and language disorders (38%) [10], in addition to congenital
anomalies [11]. Epilepsy occurs in 3494% of children with CP, depending on the
study population. Although neurological impairment beyond the motor
involvement frequently occurs, the diagnosis of CP rests upon the presence of
motor disability alone [8].
Cerebral palsy occurs in 1.23.6 children per 1,000 live births [8]. Numerous CP
registries exist throughout the world, and population prevalence rates from four conti-
nents have remained consistent over several decades [12]. Prematurity is the single
most important risk factor for CP.The risk of CP in very low birth weight infants is as
high as 410%, whereas the risk in term infants is only 10,1% live births [13].
Attempts at classification of CP have been multiple and no system has been com-
pletely satisfactory. An etiological classification is not useful because similar etio-
logical factors can produce different topology and extent of lesions and thus different
clinical features. The use of neuroimaging, and its role in the understanding of CP
pathogenesis, has dramatically increased over the last 20 years. It plays an increas-
ing role in the diagnosis of CP, and a classification according to imaging results
could be considered. However, neuroimaging, and especially magnetic resonance
imaging (MRI), is not consistently available in all countries; thus, comparison
among countries and across time periods would be difficult, especially as normal
MRI does not rule out the diagnosis of CP [6].
A clinical, phenomenological classification, therefore, is more useful than etio-
logical or pathological ones. From a clinical viewpoint, CP is usually classified into
neurologically defined subtypes: spastic, dyskinetic, and ataxic. The spastic types
can in turn be subdivided according to the topography of involvement into spastic
hemiplegia, spastic diplegia, and spastic quadriplegia [6].
Spastic forms of CP account for the majority (8590%) of cases, around one
third being unilateral and two thirds bilateral; dyskinetic forms occur in around 7%
and ataxic forms in around 4% of cases [14].
Spastic Cerebral Palsy
Spastic CP is divided into unilateral forms (hemiplegia, hemiparesis) and bilateral

spastic CP. Bilateral forms in turn are divided into leg-dominated forms, also
termed diplegia or diparesis, in which involvement of the lower limbs is dominant,
and arm-dominated forms or quadriplegia/tetraplegia or paresis, where the upper
limbs are predominantly affected or all four limbs are approximately equally
involved. These forms are further subdivided into mild, moderate, and severe types,
taking into account the functional severity [6].
Fig. 9.1 Periventricular leukomalacia in a child with spastic diplegia. Axial fluid attenuation
inversion recovery (FLAIR) images showing ventriculomegaly with irregular margins of bodies
and trigones of the lateral ventricles, loss of periventricular white matter with increased signal, and
thinning of the corpus callosum
Spastic Diplegia
The most common type of bilateral spastic CP is spastic diplegia, defined as a type in
which the lower limbs are much more severely affected than the arms. Involvement of
the upper limbs is constant, however, even though it may be very mild and detectable
only by careful examination. Preterm infants are particularly prone to spastic diplegia.
Approximately 80% of preterm infants who manifest motor abnormalities have spas-
tic diplegia [15]. In recent years, the survival of very small preterm infants has resulted
in a larger group of more severely neurologically impaired survivors [16].
The pathology of diplegia is related to periventricular lesions, which are the
predominant type of brain damage in preterm babies. Intraventricular hemor-
rhage, especially when followed by ventricular dilatation, is a possible cause of
diplegia. Periventricular leukomalacia is the most common lesion responsible
for spastic diplegia [6]. This is easily understandable, as the involved areas are
located along the external angle of the lateral ventricles, thus damaging the
fibers from the internal aspect of the hemisphere, which includes the motor
fibers to the lower limbs (Fig.9.1). The location of leukomalacia along the pos-
terior part of the lateral ventricles, interrupting the optic radiations, is respon-
sible for visual impairment [17].
Some infants with spastic diplegia manifest ataxia after further maturation.
These infants have a great increase in tone of the leg muscles and accompanying
difficulties in coordination and strength. Impairment may be asymmetric. When a
small child is held in the vertical position by the examiner and the plantar surfaces
of the feet are bounced lightly on the examining table, adduction of the legs (scis-
soring) and obligatory extension (extensor thrust) are seen. The feet are also kept in
an equinovarus posture. Further examination reveals weakness of dorsiflexion of the
feet. In older children, this same spasticity causes them to toe-walk. As expected,
signs of upper motor unit involvement are easily demonstrable in the legs (e.g.,
hyperactive deep tendon reflexes, bilateral ankle clonus, extensor toe signs). Striking
spasticity of the hip muscles may lead to subluxation of the femur and associated
Fig. 9.2 Multicystic encephalomalacia in a child with spastic quadriplegia. Axial T1-weighted
images showing numerous loculated, lacy pseudocysts within the white matter and cortex
acetabular pathological conditions and further restriction of motion [8]. After a vari-
able period, usually 18 months to 2 years in children with moderate involvement,
spasticity is increasingly accompanied by contractures that maintain the hips and
knees in flexion, and the feet in an equinovarus position.
Spastic Quadriplegia
Spastic quadriplegia is the most severe type of CP.The condition is characterized by
bilateral spasticity predominating in the upper limbs with involvement of the bulbar
muscles, almost always in association with severe mental retardation and micro-
cephaly. Quadriplegia, also termed tetraplegia, bilateral hemiplegia or four-limbed
dominated CP, is less common than diplegia. Although it accounts for only 5% of
all cases of CP, it represents a significant problem, as affected children are totally
dependent and pose the most difficult problems with regard to care, feeding, and
prevention of deformities [6].
There is a high incidence of brain malformations in this group, and destructive
processes of pre- or perinatal origin such as multicystic encephalomalacia or CNS
infections are common (Fig.9.2). The predominance of term children is confirmed
in many series [14, 18, 19].
Opisthotonic posturing may be evident in early infancy and may persist through-
out the first year of life. Movement of the head often initiates forced extension of the
arms and legs, resulting in a position similar to that in decerebrate rigidity.
Accompanying supranuclear bulbar palsy, the result of bilateral corticobulbar tract
impairment, may produce difficulties with swallowing and articulation. The incoor-
dination of the oropharyngeal muscles may predispose the patient to recurrent pneu-
monia during the first years of life [8].
Neurological examination demonstrates marked spasticity and accompanying
signs of corticospinal tract involvement, including hyperactive deep tendon reflexes,
ankle clonus, and extensor toe signs. Weakness of dorsiflexion of the feet,
Fig. 9.3 Selective gray matter lesions in a child with mixed cerebral palsy (CP). Axial FLAIR
images showing (a) basal ganglia and (b) perirolandic lesions. This child suffered a severe perina-
tal hypoxicischemic injury
associated with equinovarus deformities, is common. Marked spasticity of the hip

muscles may lead to subluxation of the femur and associated acetabular pathologi-
cal conditions. Flexion contractures of the wrists and elbows of various degrees and
spasticity of the arm muscles are readily apparent [8].
The severe forms often have some dystonic features that affect the hands, face, and
even trunk, so that differentiation from dystonic CP is not always clear-cut. The border-
line between tetraplegia and dystonic CP may be difficult to draw, and the term spastic
dyskinetic CP reflects the possible interaction of dystonic and spastic features (Fig.9.3).
The incidence of auditory, visual, motor, and learning disability is much higher
in children with spastic quadriplegia than in children with spastic hemiplegia, spas-
tic diplegia, or ataxic CP [9].
Spastic Hemiplegia
Although children may manifest obvious hemiplegia in the second year of life, spe-
cific difficulties may not be observed during the first 35 months of life. After a
perinatal stroke, an infant may be neurologically normal until the development of
pathological handedness at approximately 46 months of age. For unexplained rea-
sons, the left hemisphere (right side of the body) is affected in two-thirds of patients,
and perinatal stroke is more common on the left than on the right [20].
Spastic hemiplegia is the most common form of CP found in term-born children;
around one quarter to one third of patients are born preterm [21]. The prevalence of
unilateral spastic CP, or hemiplegia/hemiparesis, is reported in the European survey
to be about 0.6 per 1,000 live births [14].
Neonatal stroke, which encompasses ischemic perinatal infarction and sinove-
nous thrombosis occurring in the perinatal period (before the age of 7 days) or the
neonatal period (before 28 days of age), is a particularly important cause of CP [20].
Ischemic perinatal stroke may be responsible for 2850% of all cases of hemiplegic
CP in term infants [22]. Obvious prenatal factors (e.g., brain malformations) were
Fig. 9.4 Perinatal ischemic stroke in a child with hemiplegic CP. (a) Diffusion-weighted image
and (b) axial T1-weighted image showing hyperintensity in the middle cerebral artery territory
(M2)
present in 7.6% of a cohort in one series [23], but the proportion is higher in others
[24]. Obvious perinatal factors, mainly intracerebral hemorrhage, were found in
4.5% of term and 8.1% of preterm infants, and postnatal factors in 10.7% of cases
(Fig.9.4). Etiology remained unspecified in one third to one quarter of cases, even
though abnormal prenatal events were much more frequent in patients than in con-
trol infants [6].
During the examination, the child exhibits impaired gross and fine motor coordi-
nation, has difficulty moving the hand quickly, and is frequently unable to grasp
small items with a pincer grasp. The obligate (palmar) grasp reflex, which is usually
absent by the age of 6 months and frequently rudimentary after the age of 4 months,
may remain obligate. Weakness of the wrist and forearm is often associated with a
limited range of motion of supination. The range of elbow extension may be
restricted. Attempts at reaching for objects may be accompanied by athetotic pos-
turing with flexion of the wrist and hyperextension of the fingers (avoidance reac-
tion). Facial involvement is unusual [8].
Only 10% of affected patients, including those with extensive hemiplegia, have
homonymous hemianopia [25]. Children with hemiparesis may have a circumduc-
tion gait with a variable degree of abnormality. Most commonly, the child walks on
the toes and swings the affected leg over a nearly semicircular arc during the course
of each step. In contrast with the leg, the affected arm usually moves less than nor-
mal and does not participate in normal reciprocal motion during ambulation. An
equinovarus positioning of the foot is seen; weakness and a lack of full range of
motion of dorsiflexion are often present. Further evidence of upper motor neuron
involvement on the hemiplegic side includes hyperreflexia of the deep tendon
reflexes, ankle clonus, and extensor toe signs [8].
Although frequently overlooked, corticosensory impairment and hemineglect of
the affected side are common. Examination for the integrity of stereognosis and
graphesthesia usually reveals varying degrees of compromise [26].
Dyskinetic Cerebral Palsy
The prevalence of dyskinetic CP (dystonic and athetoid subtypes combined) is about

0.15 per 1,000 live births [14]. It is particularly reported in term-born children [21].
Dyskinetic CP is characterized by involuntary, uncontrolled, recurring, occasion-
ally stereotyped movements, with persistence of predominant primitive reflex pat-
terns and varying muscle [14]. The essential disability in dystonicdyskinetic CP is
an inability to organize and properly execute intended movements, to coordinate
automatic movements and to maintain a posture. This results in major disability, all
the more so as primitive motor patterns, such as the asymmetrical tonic neck reflex,
are usually persistent and there is often some degree of associated spasticity [6].
In the dystonic subgroup, the motor disorder is characterized by sudden, abnor-
mal shifts of general muscle tone, especially increases in muscle tone in trunk
extensors induced by emotional stimuli and changes in the posture of neck muscles
in intended acts or movements. These patients also have a tendency to repeatedly
assume and retain distorted, twisted postures in the same stereotypical pattern [27].
As discussed above, severe bilateral spastic CP is very often characterized by addi-
tional dyskineticmore specifically dystonicfeatures.
Choreoathetotic CP is characterized by large-amplitude, involuntary movements.
Athetosis usually involves the distal limbs and results in slow, writhing, involuntary
movements. Chorea may involve the face, limbs, and rarely the trunk. The combina-
tion of athetoid and choreiform movements results in a pattern of distal extremity
movement, on-going hypertonia, and rotary writhing movements of the limbs.
Tremor, myoclonus, and even some element of dystonia may also be evident. Pure
dyskinetic MDs do not feature hyperreflexia with clonus or pyramidal signs,
whereas in dyskinetic CP these spastic signs may be present [8].
Dyskinetic forms of CP constitute a rather well-defined group from the etiologi-
cal point of view [27]. The incidence of perinatal factors is higher than in other
types of CP, with 67% of factors referable to the perinatal period, 21% to the pre-
natal period, and a small proportion of postnatally acquired or untraceable cases.
Hyperkinetic cases are seen both in term infants of normal birth weight who suffer
severe asphyxia at birth and in small for gestational age infants with hypoxia [28].
Among hyperkinetic cases there is a very high proportion of preterm, appropriate
for gestational age, infants, some with hyperbilirubinemia, often in combination
with hypoxia (Fig.9.5).
Ataxic Cerebral Palsy
Ataxic CP, called by some authors nonprogressive congenital ataxia [29],

occurred in 0.09 per 1,000 live births in a European series [14]. Nonprogressive
ataxia is an obviously heterogeneous condition. Its pathogenic mechanisms are
poorly known and its nosological interpretation is controversial. The term is used
here to designate only those cases in which cerebellar symptoms and signs are
clearly at the forefront.
Fig. 9.5 Kernicterus in a child with dyskinetic CP. (a) Axial T2-weighted image shows bilateral
pallidal hyperintensity (arrows) and (b) coronal T2-weighted image shows bilateral pallidal and
subthalamic hyperintensity (arrowheads)
Most cases of nonprogressive cerebellar ataxia are congenital, even though the
clinical manifestations often do not become suggestive before 1 or 2 years of age, at
the time when children normally begin to walk [6]. Prenatal factors play a dominant
role in the etiology of nonprogressive cerebellar ataxia and genetic abnormalities
are probably the main cause of this type of CP.Ataxia is discussed in Chap.5.
Mixed Cerebral Palsy
Children with a combination of spastic and dyskinetic types are labeled as having a
mixed type.
Management
The management of CP requires a comprehensive multidisciplinary team approach

that can deal with the numerous psychological, behavioral, and physical needs of
the child and family.
The goal of physical therapy is to help individuals develop coordination [3032],
build strength [3337], improve balance [3840], maintain flexibility [4144], opti-
mize physical functioning levels, and maximize independence [30, 32, 3539, 45,
46]. Physical therapists instruct patients and families on the proper use of walkers
and/or other gait adaptive equipment.
Physical therapy involves the practice of postural transferring, such as rolling,
sitting, crawling, kneeling, standing and walking [3639, 4347]. The largest ben-
efit of therapy to the child with CP is in the treatment of problematic conditions
when they occur, including muscle atrophy or tightening [3336], loss in joint range
of motion [4144], muscle spasticity [43, 44, 48], pain in muscles and joints, joint
inflammation, and/or contractures (muscle rigidity) [43, 44].
Occupational therapists teach techniques for easier dressing and other forms of
self-care. They instruct on how to use splints for the hand and/or wrist to aid in eat-
ing, or other devices to help the child to reach and/or grasp objects. The goal of
therapy is to ensure that a child achieves the highest level of functional performance
within their home, school, public, and work environments [30, 32].
Occupational therapy employs adaptive processes to teach a child to perform
tasks required in the normal course of a day. This is accomplished by focusing on
identifying adaptive methods a child can learn to complete tasks, breaking down
essential tasks into smaller steps, often modified, capitalizing on the need for
accomplishment, pride, enjoyment, and independence, developing in a child a sense
of place in their environment, at school, and in the community [30, 32, 49, 50].
Speech therapy can be helpful in improving oral motor control and swallowing.
Some children with cerebral palsy have difficulty controlling the muscles in their
face, throat, neck, and head. This can lead to troubles with speech, chewing, and
swallowing [51]. It can also cause drooling and affect the overall ability to interact
and learn. Those who also have difficulty hearing may have a hard time understand-
ing spoken language.
Speech and language therapy seek to improve a childs speech and communica-
tion by strengthening the muscles used for speech, increasing oral motor skills, and
by improving their understanding of speech and language [51, 52]. It can also can
help with swallowing disorders, such as dysphagia. Speech therapy is also helpful
in addressing verbal fluency, which may be affected by both motor (oral motor con-
trol) and cognitive (memory and perception) losses [52].
Movement disorders cause not only pain and discomfort, but also depression,
social isolation and low quality of life, owing to the embarrassment caused by the
involuntary movements. Motor rehabilitation can minimize pain and isolation; thus,
adherence to motor rehabilitation is important for achieving positive results [30, 53].
To ensure repetition and, therefore, motor learning, patients and caregivers must be
instructed to practice at home the exercises performed at therapy sessions [30, 53].
Treatment should begin as early as possible, with the goal of therapy formulated to
improve care, optimize motor function, prevent orthopedic deformities, and address
associated impairments. Rehabilitative programs have a direct benefit for parent
child relationships, social and emotional status, confidence, and self-esteem [54].
Clinical Scales
ross Motor Function Measure

G
Motor function may be assessed with Gross Motor Function Measure (GMFM).
The GMFM is a widely used, criterion-referenced, clinical observation tool, with a
scale from 0 to 100, that was developed and validated for children with CP. It has
excellent reliability and demonstrates the ability to evaluate meaningful change in
gross motor function in children diagnosed with CP [55].
The GMFM measures gross motor function when carrying out lying and roll-
ing, crawling and kneeling, sitting, standing, and walkrunjump activities. It
focuses on the extent of the achievement of a variety of gross motor activities
(mainly mobility skills and activities requiring postural control such as sitting,
kneeling, and standing on one foot) that a typically developing 5-year-old can
accomplish [55].
ross Motor Function Classification System

G
Children with CP can be categorized using the Gross Motor Function Classification
System (GMFCS) into five levels where level I is the greatest mobility; the child
walks without restriction: limitations in more advanced gross motor skills to level
V; self-mobility is severely limited, even with the use of assistive technology
[56]. The GMFCS is a reliable and valid system that classifies children with CP
according to their age-specific gross motor activity.
The GMFCS describes the major functional characteristics of children with CP
at each level within the following age windows: before the second birthday; between
the age of 2 years and the 4th birthday; between the age of 4 years and the 6th birth-
day; and between the ages of 6 and 12 years.
ediatric Evaluation ofDisability Inventory

P
The Pediatric Evaluation of Disability Inventory (PEDI) was developed as a com-
prehensive functional assessment instrument for rehabilitation. It has three domains:
self-care, mobility, and social function. Caregiver assistance in complex activities
and environmental modifications/equipment can be described. PEDI can be used as
a parent report/structured interview instrument or by professionals observing the
childs functional behavior in a hospital or outpatient setting.
The self-care domain has 73 items, mobility has 59, and social function has 65
items. There are eight questions on self-care and five on social function, scoring 5
for independent, 4 for supervised, 3 for minimal assistance, 20 for moderate assis-
tance, 1 for maximum assistance, and 0 for full assistance. Lower scores mean
greater dependence [57].
Spastic Cerebral Palsy Treatment
Spasticity causes muscle stiffness and weakness, and decreases daily functional
activities, including standing and walking [48]. A variety of antispasticity interven-
tions are available for the treatment of children with CP, including physical therapy,
oral medications, neurolytic blocking agents, intrathecal baclofen pumps,
tendon-lengthening procedures, and selective dorsal rhizotomy.
Physical Therapy
In general, physical therapy programs are tailored to the needs of children. Physical
therapy assessment of children with CP includes history, functional level, neuromo-
tor characteristics (spasticity, muscular synergies, voluntary movement description,
transferring description, joint range of motion, strength), sensory systems (visual,

vestibular, proprioceptive, hearing, tactile), perception, respiratory, and cardiac
functions. Based on this evaluation, objectives are established and a treatment is
proposed [58].
Specific treatment programs at the different levels of functional independence at
a particular moment show better results than general therapy programs, but both
approaches have positive effects on gait speed and gross motor function [38]. Most
studies address the outcomes after physiotherapy programs for children with hemi-
plegia or diplegia [30, 32, 36, 37, 43, 44], but some studies also show improvement
in children with quadriplegia [35, 53].
assive Muscle Stretching

P
Passive muscle stretching is used for individuals with spastic CP to reduce the
tightness or contracture of soft tissues. Manual stretching can increase the range
of movements, reduce spasticity, and even improve walking efficiency in children
with spasticity. Sustained stretching of longer duration showed greater improve-
ment in the range of movements and reduced spasticity of muscles around tar-
geted joints [41].
Prolonged passive muscle stretching while standing on a tilt-table decreases
the resistance to passive ankle joint movements in children with CP [42]. A daily
standing program with hip abduction provided acetabular development and main-
tained hip abduction range of motion in the spastic adductor muscles in ambula-
tory children with spastic diplegia CP, when performed during the first years of
life [43, 44].
uscle Strengthening by Functional Training

M
According to neurodevelopmental treatment principles, the motor problems of
CP arise fundamentally from central nervous system dysfunction, which inter-
feres with the development of normal postural control against gravity and impedes
normal motor development [45, 59]. The goal is the establishment of normal
motor development and function and/or the prevention of contractures and defor-
mities. The approach focuses on sensorimotor components of muscle tone,
reflexes and abnormal movement patterns, postural control, sensation, percep-
tion, and memory [59].
Handling techniques that control various sensory stimuli have been used to
inhibit spasticity, abnormal reflexes, and abnormal movement patterns. Neuro
developmental treatment is used to facilitate normal muscle tone, equilibrium
responses, and movement patterns. The normal developmental sequence is advo-
cated as a framework for treatment. Neurodevelopmental treatment focusing on
sit-to-stand transfer enables children with spastic diplegia to perform these move-
ments more efficiently, with selective muscle control. Results can be observed
after the first session of treatment [45].
A dynamic postural stability training program improves balance control and gait
parameters in children with CP.The program has eight levels of difficulty and con-
sists in keeping balance while standing on a platform. It has resulted in improve-
ments in stability indices and gait parameters in children with spastic CP [39].
One study showed that trunkhip strengthening exercises are effective for
improvement in trunk and hip muscle activation. The exercises also improved the
position of the pelvis, with a decrease in anterior pelvic tilt motion during standing
in children with spastic diplegia [37]. The association of neurodevelopmental treat-
ment and progressive functional training can increase the muscle thickness of the
quadriceps femoris and rectus femoris and improve the mobility of children with
spastic CP [36].
Children with moderate to severe cerebral palsy also benefit from muscle
strengthening. Children classified as IV or V in the GMFCS are at risk for low bone
mass for chronological age, which compounds the risk in adulthood for progressive
deformity and chronic pain. A regular program of seated speed, resistance, and
power training exercises improve bone mineral density and prevent spinal deformity
and back pain in adulthood [35, 56]. Some patients also report improved bowel and
bladder control, and increased energy levels [35].
A daily physiotherapy program, based on motor learning principles, was feasible
and improved overall development, even in children with cerebral palsy at GMFCS
level V, which is the lowest motor function level [53]. After 4 consecutive weeks of
2h of PT intervention based on motor learning principles 5 days a week, children
showed improvements in motor function, language, and cognitive skills [53].
Electrical Stimulation
Electrical stimulation has been applied in children with CP to increase strength and
range of motion, reduce spasticity, and improve the performance of activities [33].
Neuromuscular electrical stimulation activates muscles in isolation when aimed at
reducing impairments such as weakness or spasticity, whereas threshold electrical
stimulation affects muscles at subcontraction levels (often during sleep) when
aimed at increasing circulation [34].
In contrast, functional electrical stimulation causes muscles to contract during
the performance of an activity such as sitting, standing up from a chair, walking,
or reaching for and manipulating objects [33]. Therefore, electrical stimulation has
been recommended as an additional tool during functional practice of children
with CP [34].
onstraint-Induced Movement Therapy andBimanual Intense Therapy

C
Constraint-induced movement therapy attempts to promote hand function by
using intensive practice using the affected hand while restraining the less-affected
hand [32]. Impaired hand function is among the most functionally disabling
symptoms of children with unilateral cerebral palsy. Recent approaches providing
intensive upper extremity training are promising: constraint-induced movement
therapy, when children perform tasks with the affected hand, and bimanual train-
ing (handarm bimanual intensive therapy), when children perform tasks that
require both hands.
Constraint-induced movement therapy and bimanual training improve dexterity
and bimanual upper extremity use; however, training must have a high intensity.
Ninety hours of constraint-induced movement therapy and bimanual training lead to
greater improvements than 60h of the same treatments [30]. Bimanual training may
allow direct practice of functionally meaningful goals, and such practice may trans-
fer to unpracticed goals and improve bimanual coordination. Increased dosing fre-
quency may be needed for older children and combined approaches may be useful,
but require sufficient intensity.
The constraint-induced movement therapy has been recently proposed in the
context of a day camp model for children aged 59 years with spastic hemiplegic
cerebral palsy. The intervention resulted in significant improvement in distal control
of the affected limb. It is interesting to mention that increased social function was
also observed after the intervention. All improvements were maintained at the
3-month follow-up assessment [32].
Another recent study showed the positive effects of a home-based, intensive
bimanual intervention with children with unilateral spastic cerebral palsy.
Trained caregivers provided 90h of intensive, bimanual handarm therapy in the
home after which children demonstrated significant improvements in hand func-
tion [30].
irtual Reality Training

V
Virtual reality treadmill training has been beneficial for children with spastic cere-
bral palsy. A study showed that gait performance improved after 8 weeks training
[46]. Treadmill gait training with virtual reality was also very effective for improv-
ing the balance abilities and muscular strength of the lower limbs and gross motor
function [46].
Virtual reality training improved handeye coordination and visual motor
speed in children with spastic cerebral palsy [31]. Motion interactive games can
be a complementary tool in home rehabilitation. There was significant improve-
ment in the motor performance of children who had home practice with the
Nintendo Wii [49].
Hippotherapy
Horseback riding has been considered one of the best interventions for promoting
the sitting ability of children with spastic cerebral palsy [47, 60, 61]. Park etal.
[61] demonstrated the beneficial effects of hippotherapy on gross motor function
and functional performance in children with CP.Previous studies have indicated
the therapeutic effects of horseback riding, including improvement in postural sta-
bility, increase in sensory inputs, decrease in muscle tone, increase in range of
motion, facilitation of muscle synergy, and improvement in postural muscle activi-
ties [40, 47, 60].
Aquatic Therapy
Lai etal. [62] investigated the effects of aquatic therapy on motor function, enjoy-
ment, activities of daily living, and health-related quality of life for children with
spastic CP of various motor severities. Aquatic therapy improved the scores on a
66-item GMFM, even for children with GMFCS level IV.Children treated with
aquatic therapy had higher Physical Activity Enjoyment Scale scores.
Sensory Integration
Sensory integration is the main approach for children with learning difficulties,
attention deficits, and autism. It focuses on the sensory aspects and has a positive
impact on motivation, attention, quality of movement, and social and emotional
well-being. Sensory integration principles include giving the opportunity to experi-
ence sensory stimuli, encouraging adaptive responses with sensorymotorcogni-
tive interaction, motivating the child to explore the environment [58].
Orthoses
Anklefoot orthoses control equinus feet and knee hyperextension, caused by tri-
ceps spasticity. They can improve gait quality and reduce energetic demands during
walking [58]. Children with spastic diplegic CP, who ambulate with excessive
ankle plantar flexion during stance show improvement with bilateral anklefoot
orthoses [63].
Prescription of anklefoot orthoses is common for patients with CP.Typical
treatment objectives are to improve anklefoot function and enhance general gait
quality. Ries etal.[64] investigated the effectiveness of anklefoot orthosis for
improving the gait of children with diplegic CP. They concluded that step length
exhibited clinically meaningful improvement. Orthosis design was shown to effect
changes in speed and ankle function and should be investigated in future studies.
Oral Therapy
Oral therapy is usually of greater relevance for individuals with diplegic or
quadriplegic CP.Several agents have been used with some benefit, including benzo-
diazepines, dantrolene, baclofen, and alpha-2-adrenergic-agonists (tizanidine). In
general, these approaches help to reduce spasticity, but have little beneficial effect
on signs of weakness and incoordination [65].
euromuscular Blocking Agents

N
Neuromuscular blocking agents, including alcohol, aqueous phenol, local anesthet-
ics, and botulinum A toxin, have been use to improve the balance between overly
spastic agonist muscles and weakened antagonist muscles. Botulinum A toxin, the
most widely used agent in this category, acts by blocking acetylcholine release at
the neuromuscular junction. Typically, the peak effect occurs at 24 weeks and rein-
jection is necessary at 1214 weeks [66]. A subcommittee of the American Academy
of Neurology has recommended that botulinum neurotoxin be offered as a treatment
option in children and adults with spasticity [67].
Continuous intrathecal baclofen infusion through indwelling catheters and a pro-
grammable pump has been shown to reduce spasticity in the upper and lower
extremities and improve function and activities of daily living [68]. Complications
include infections, problems with the catheter (kinking, migration), headaches, nau-
sea, and unresponsiveness or profound hypotonia caused by overdosing.
Intrathecal baclofen has been shown to be beneficial in dystonic CP, but not in
other dyskinetic forms [69]. Typical candidates for this therapy include children
with moderate to severe spastic quadriplegia in whom oral therapy has failed, those
who respond to a screening bolus of medication, and those who have adequate body
size for placement of the subcutaneous pump [66].
Orthopedic Surgery
The role of the orthopedic surgeon is to maintain or enhance motor abilities and to
prevent deformities through procedures such as tendonotomies, muscle transfers,
osteotomies, and arthrodesis. Aggressive use of botulinum A toxin, physical ther-
apy, casting, and orthotics has effectively delayed the timing of surgical intervention
to later in childhood. There is also an increasing trend toward single-event, multi-
level surgery rather than sequential, more piecemeal, approaches [70].
Dyskinetic Cerebral Palsy
The treatment of dyskinetic CP is complicated, because most individuals have

mixed degrees of chorea, athetosis, and dystonia. The general approach to therapy
in the child with CP is to target the dyskinetic movement that is causing the greatest
difficulty. Therapeutic trials are largely empirical, and responses are often individu-
alized [65].
When the symptom is primarily chorea or athetosis, benzodiazepines, valproate,
carbamazepine, tetrabenazine, and neuroleptics are often prescribed. In contrast,
therapy for dystonic CP includes trials with anticholinergic medications (biperiden,
trihexyphenidyl) [71], baclofen, anticonvulsants (carbamazepine, clonazepam),
antiparkinsonian medications (levodopa/carbidopa), and botulinum toxin [66].
Preliminary studies have suggested that deep brain stimulation may be effective
in selected patients with dystonia, and possibly choreoathetosis [72].
Dystonia
Childhood dystonia is defined as a movement disorder in which involuntary sus-

tained or intermittent muscle contractions cause twisting and repetitive movements,
abnormal postures, or both [4]. Dystonia can occur as an associated feature in may
static and degenerative childhood disorders. Although the term seems to imply an
abnormality of tone, dystonia is not primarily a disorder of tone, but rather a disor-
der of posture and/or movement. When individuals with dystonia are at rest, tone is
often diminished, although, in severe dystonia, involuntary contractions persist dur-
ing attempted rest and tone may be increased. Dystonia can manifest as hypertonic
dystonia with increased stiffness, hyperkinetic dystonia with increased movement,
or a combination of the two.
Dystonia can also be reflected in very slow twisting or writhing movements or
very quick ballistic movements, and can have rhythmicity, appearing to be a tremor,
in which case it would be referred to as dystonic tremor [2]. Causes of dystonia and
dystonia-like movements in childhood are summarized in Table9.2.
Table 9.2 Main causes of dystonia in childhood [2]

Static injury/structural disorders Hereditary/degenerative disorders
Cerebral palsy DYT1
Hypoxicischemic injury DYT2
Kernicterus DYT3
Head trauma DYT4
Encephalitis DYT5
Tumors DYT6
Stroke in the basal ganglia (which may be due DYT7
to vascular abnormalities or varicella)
Congenital malformations DYT8
Drugs/toxins DYT9
Neuroleptic and antiemetic medications DYT10
Calcium channel blockers DYT11
Stimulants (amphetamine, cocaine, ergot Fahrs disease
alkaloids)
Anticonvulsants (carbamazepine, phenytoin) Pantothenate kinase-associated
neurodegeneration
Thallium Huntingtons disease
Manganese Spinocerebellar ataxias
Carbon monoxide Neuronal ceroid lipofuscinosis
Ethylene glycol Retts syndrome
Cyanide Striatal necrosis
Methanol Leighs disease and other mitochondrial
disorders
Wasp sting Neuro-acanthocytosis
Paroxysmal disorders Ataxiatelangiectasia
Paroxysmal nonkinesigenic choreoathetosis TaySachs disease
(DYT9)
Paroxysmal kinesigenic choreoathetosis NiemannPick type C
(DYT10)
Exercise-induced dystonia GM1 gangliosidosis
Alternating hemiplegia of childhood Metachromatic leukodystrophy
Paroxysmal torticollis of infancy LeschNyhan disease
Glutaric aciduria types 1 and 2
Acyl-CoA dehydrogenase deficiencies
Wilsons disease
Methylmalonic aciduria
Dystonia is classified by etiology as either primary or secondary, and by distribu-

tion as focal, segmental, hemidystonia, multifocal, or generalized dystonia (Table9.3).
Clinical Evaluation
Discriminating dystonia in children is complex and requires observation and knowl-

edge of the disorders that may be concurrent with dystonia, such as spasticity,
retractions, weakness, and bradykinesia. A neurological examination associated
with clinical scales may describe and provide scores to quantify dystonia.
Table 9.3Dystonia Etiology

classification Primary: when it is the
predominant or only clinical
feature
Secondary: when it exists as just
one neurological sign or
symptom among others
Distribution
Focal: involves a single part of
the body, such as a limb, the
neck, or the face
Segmental: involves the muscles
of two contiguous body parts
Hemidystonia: involves all or
most muscles on one side of the
body
Multifocal: involves two or
more noncontiguous body
regions
Generalized: involves multiple
limbs on both sides of the body,
including at least one leg
The Hypertonia Assessment Tool for children was developed to differentiate

between the clinical features of childhood hypertonia: dystonia, spasticity, and
rigidity. It consists of seven items to assess the presence/absence of hypertonic com-
ponents. It is useful for both clinical and research purposes [73].
The BurkeFahnMarsden Movement Scale was designed with two compo-
nents: a movement scale and a disability scale. It is mainly based on function and
was designed to evaluate primary dystonia. The scale assesses nine body regions
with regard to the severity factor and the provoking factor. The disability scale is
based on the individuals assessment of how the dystonia affects activities of daily
living [74].
The BarryAlbright Dystonia Scale was developed to assess children and
adults who are unable to cooperate with the examination, particularly children
with secondary dystonia. Patients with secondary dystonia may have cognitive
deficits, may be unable to follow instructions, and often have difficulty with daily
motor activities. It is a five-point ordinal scale for eight body regions: eyes,
mouth, neck, trunk, left and right upper extremities, and left and right lower
extremities [75].
The Unified Dystonia Rating Scale evaluates the severity and duration of excess
movements in dystonia in 14 different body regions. It quantifies involuntary excess
movement and does not reflect hypertonia or fixed postures. The Global Dystonia
Rating Scale is a more detailed version, with a larger ordinal scale ranging from 0
to 10 instead of from 0 to 4 points for the 14 body regions [76].
Treatments forDystonia
Oral Medication
Because dopa-responsive dystonia can mimic CP, it has been recommended that all
children with unexplained dystonia or CP be given a trial of l-DOPA [39]. l-DOPA
may be helpful in some children, even those with secondary dystonia [40].
Anticholinergic medication is very effective in acute dystonic reactions. It is
partly effective in a subset of children with chronic dystonia [37]. Its mechanism of
action for dystonia is not known, although it is presumed to have an effect on the
large cholinergic interneurons of the striatum.
Diazepam and other benzodiazepines or sedative medications can occasionally be
helpful. Baclofen has been used and may be effective in some cases, although its mech-
anism of effectiveness in dystonia is not known. Intrathecal baclofen can reduce tone in
generalized dystonia if the catheter is placed at a cervical level [35]. Orthopedic proce-
dures may not have expected outcomes in children with dystonia, as there is a tendency
for dystonia to transfer to other muscles following an orthopedic procedure [2].
Neuromuscular Blocking Agents
When dystonia is associated with increased tone, botulinum toxin has been shown
to be very effective in directly reducing the tone in the hypertonic muscles, but it
may also be effective in changing the overall pattern of dystonia. In particular, it is
sometimes observed that botulinum toxin injection into one muscle will relax other
muscles of the same limb [41]. Botulinum toxin causes reversible denervation of the
neuromuscular junction, due to the inhibition of the release of acetylcholine into the
neuromuscular junction [77].
Neurosurgery
Neurosurgical intervention is reserved for the most severe cases, but the possibility
that earlier surgical intervention may slow progression of the disease or lead to a
longer disease-free interval has been raised. Pallidotomy and thalamotomy have
been in use for many years, with some success.
More recently, deep brain stimulation has become available, and multiple targets
have been attempted, including the ventrolateral thalamus. The advantage of deep
brain stimulation is the ability to control the current delivery and the ability to select
one or a combination of up to four electrodes through an external programmer. The
stimulation wire is implanted using a combination of stereotactic neurosurgical
techniques and usually microelectrode recording for precise localization. The lead
is connected to a pacemaker implanted in the chest. For generalized dystonia, both
sides usually need to be implanted [2].
Physical Therapy
Dystonia is a devastating neurological condition that prevents the acquisition of

normal motor skills during critical periods of development in children [78]. In
childhood dystonia, the ability to appropriately suppress variable and uncorre-
lated elements of movement is impaired [79]. Increased variability may repre-
sent an inability to suppress motor noise, resulting in the superposition of
unwanted motion components on the desired movement. This may lead to more
variable and less efficient motor outcomes, which are typical in dystonia.
Muscle activity in dystonia typically exhibits both overflow into task-unrelated
muscles and greater variability within task-related muscles than in healthy sub-
jects [8082].
A recent study showed that children with dystonic CP may benefit from physical
therapy that specifically accommodates the unique motor control disorder [83].
Dystonia may not be a velocity-dependent hypersensitivity of reflexes and may
include position-dependent muscle reflexes and co-contractions. Therefore, the
correct positioning is essential to optimize vestibular responses and improve
postural control [83].
Postural Reeducation
Stretching and strengthening of muscles can minimize physical limitations,

prevent contractures and increase postural stability [77, 8487], resulting in a
decreased need for doses of botulinum toxin [85, 88]. Postural reeducation and
soft tissue mobilization may reduce the pain in patients with cervical dystonia
[84, 85].
Voos etal. [89] and Queiroz etal. [90] showed that exercises for the trunk,
following the same principles of stretching shortened muscles, strengthening
weak muscles, and stabilizing joints reduced pain and improved functional
independence. Manual soft-tissue mobilization reduced local pain and discom-
fort and increased the passive range of motion [84, 85, 89, 90]. Smania etal.
[84] , Tassorelli etal. [88] , and Ramdharry [85] observed that posture training
reduced pain and improved functional performance in activities of daily
living.
Constraint-Induced Movement Therapy
Constraint-induced movement therapy has been successfully used for the treatment
of focal hand dystonia. Casting can decrease hand dystonia in patients with early
onset, mild dystonia [91, 92]. However, the constraint must be used with caution as
dystonia can worsen in a casted limb, and high forces incurred against the cast or
brace may lead to skin breakdown.
Biofeedback
Several studies have reported positive effects of biofeedback of muscle activity in

reducing muscle activation in individuals with dyskinetic CP.Two recent studies
investigated the effectiveness of visual biofeedback of hand muscle activity in chil-
dren with dystonia [93, 94]. Children with dystonia significantly reduced their co-
contraction, in addition to their overflow of the nontask muscle activity when visual
feedback was provided. These results indicate that children with dystonia are at
least partially able to control co-contraction and reduce overflow.
A study of 10 children with dystonia reported significant improvement in arm
function after using electromyography (EMG) biofeedback for 5h per day for 1
month [95]. The mechanism of motor improvement using EMG biofeedback could
be related to increased attention and enhanced sensation of muscle contraction
mimicking proprioception. Another possible mechanism for improvement is the
induction of plasticity associated with the increased correlation between a motor
action and its sensory result. By increasing the sensation associated with muscle
contraction, biofeedback can further enhance cortical or subcortical representations
of movement [96].
Sensory Tricks
To deal with the dystonic movements, patients commonly adopt specific gestures,
called sensory tricks [77]. Almost 90% of patients report that sensory tricks (e.g.,
touching the chin, touching the posterior or superior part of the head) temporarily
reduce involuntary movements [97, 98].
The increase in dystonic movements during motor activities (e.g., walking or
writing) can be explained by a limitation of the central processing, which prevents
the inhibition of dystonic movements during dual or multiple tasks. The decrease in
these involuntary movements and improved control with sensory tricks may occur
because of extra feedback provided by performing these strategies [87, 97]. The fact
that some patients present a reduction in involuntary movements just by imagining
that they were performing the sensory trick [99] suggests the occurrence of an
important central modulation of the dystonic movements.
Sensory tricks are an important therapeutic strategy and can be used by physical
therapists to gain functional independence and reduce discomfort. Crowner [87] pro-
posed the use of sensory tricks during physical therapy to optimize functional gains, but
mentioned that very few studies had tried this approach so far. Ramdharry [85] used a
sensory cue (a light touch on the face) to help the patient to control dystonic muscles.
Kinesiotape
Kinesiotape may be an adjunct intervention to exercise, because kinesiotape

enhances the patients ability to control dystonic movements [89, 100]. According
to Jankovic [86], external resources for providing better alignment may increase the
proprioceptive feedback, helping the patient to develop sensory tricks and recruit
antagonists of the dystonic pattern.
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Future Perspectives: Assessment Tools
andRehabilitation intheNew Age 10
GreydonGilmore andMandarJog
Abbreviations
BG Basal ganglia
FOG Freezing of gait
IRED Infrared-emitting diode
LED Light-emitting diode
MD Movement disorder
PD Parkinsons disease
UPDRS Unified Parkinsons Disease Rating Scale
VR Virtual reality
Introduction
The clinical study of movement disorders (MDs) remains a challenge, despite the
advancement of technology, stemming partially from the difficulty of objectively
studying the effect of the disease and its impact on the physical and mental state of
the patient. Currently, validated methods for such assessments are entirely scale-
based and hence face the issues of intra- and inter-rater reliability, correlation with
the aspects of quality of life that actually affect the patient, and additionally, are not
particularly sensitive to the therapeutic interventions that exist for these diseases.
G. Gilmore, M.Sc., B.Sc.

Physiology and Pharmacology, Western University,
London, ON, Canada N6A 3K7
M. Jog, M.D., F.R.C.P.C. (*)
Clinical Neurological Sciences, London Health Sciences Centre,
London, ON, Canada N6A 5A5

DOI10.1007/978-3-319-46062-8_10
156 G. Gilmore and M. Jog
The use of objective measurements for titration and adjustment of therapy is well
accepted in disorders such as hypertension and diabetes. Medical management of
these conditions is critically dependent on the measurement of the individual vari-
ables, namely blood pressure and blood sugar. At present, no such technique is being
used in the clinical treatment of neurodegenerative disorders. Researchers have
improved the reliability of disease assessment ratings through the increased use of
objective and quantitative data collection tools over the past few years [1]. A recent
review discussed current technology and the potential for these technologies to
replace outdated clinical rating scales [1]. The advancement of successful and estab-
lished (e.g., levodopa for Parkinsons disease) in addition to more complex interven-
tions (e.g., deep brain stimulation, Duodopa pump treatment) has accentuated the
need for improved assessment measures for many disorders. The question of man
versus machine, increasing the use of technology to counter subjectivity, has
become more prevalent in the current literature looking to assess and quantify patient
symptom profiles [1]. The primary goal of these attempts is to provide the clinician
with a useful and noncumbersome yet reliable tool kit, especially for issues regarding
mobility, to adjust therapy and thereby improve the patients quality of life.
Parkinsons disease (PD) is a neurodegenerative MD presenting with several
common hallmark motor symptoms such as: tremor, bradykinesia, dyskinesia, bal-
ance difficulty, falls, and gait impairment [5]. The primary pathophysiological cause
of the PD motor symptomatology is the neurodegeneration of dopaminergic neu-
rons in the substantia nigra pars compacta (SNc) within the basal ganglia (BG) [5].
One of the key features of the PD motor symptoms is that they manifest when there
is a 6080% loss of dopaminergic neurons within the SNc [5]. PD is complicated
further by frequently observed comorbid nonmotor symptoms, such as depression,
cognitive deficits and sleep disturbances [5]. The nonmotor symptoms arise, in part,
from neurodegeneration within other areas, including the cortex and locus ceruleus
[5]. The important point here is that this spectrum of motor and nonmotor symp-
toms varies from person to person, and tends to become increasingly fluctuant as the
disease progresses, requiring highly individualized therapy. In this chapter, PD is
used as the signature disease to address the concepts of technology-based mobility
assessment and individualized treatment optimization/rehabilitation.
To provide such individualized therapy, patients are currently required to meet
with the physician in clinic every 6 months to a year, for a short period of time. The
clinic visit provides a snapshot of the patients condition, which often does not
reflect the daily challenges that the patient may face and the assessment tools are not
adequate to provide an insight into this issue. Given the lack of such measures
(except for subjective quality of life scales), the clinician finds it virtually impossi-
ble to titrate management, medical, surgical or rehabilitative, to actually improve
such function. Indeed, the adjustment of therapy is largely directed at the subjective
reporting of the motor state and the observed motor state, but not during the perfor-
mance of functional tasks. Furthermore, in clinical practice severity evaluation and
adjustments in treatment rely too heavily on the clinicians expertise, which lacks
inter-rater reliability [1, 10]. The use of more objective and quantitative motor
assessment methods, carried out while the patient is performing some standardized
10 Future Perspectives: Assessment Tools andRehabilitation intheNew Age 157
activity of daily living tasks, which can then be used to optimize medical and
rehabilitative management, is imperative in improving the quality of life for indi-
viduals diagnosed with PD.Although this approach is not likely to change the
course of the disease, it may allow the patient with PD to continue to experience
some control of their autonomy while dealing with increasing disease disability.
Clark [11] first proposed the concept of physical therapy as a treatment option
for PD, even before the implementation of levodopa in the 1960s by Birkmayer
[11]. Clark [11] described implementing specific exercises to help to improve the
speed of extremities and to maintain these exercises to prevent the deleterious
effects of inactivity. Currently, rehabilitation is considered an effective adjunctive
therapy to pharmaceutical and surgical treatments. Physical therapy rehabilitation
allows for the maximization of functional abilities and improved quality of life.
However, until recently, the underlying mechanism was unknown. The physical
therapy rehabilitation techniques currently used are not suitable for individuals with
PD owing to the symptomatic constraints of the disease. A recent meta-analysis
examined current physical therapy techniques in individuals with PD and found that
it provides only a transient improvement of motor symptoms [11]. Another random-
ized clinical trial explored the clinical effectiveness of individualized physiotherapy
in a population of 762 individuals with PD [11]. It was found that physiotherapy
was not associated with immediate clinically meaningful improvements in mild and
moderate PD [11]. A successful rehabilitation technique for individuals with PD
requires ecologically valid tasks that these individuals would normally perform
every day. Furthermore, the area where the training occurs should be suitable for
each patient as individuals may perform better in their own home or environments
closer to home than in a clinic. Most importantly, rehabilitative techniques are often
not available except at specialized centers requiring travel which is a difficult and
unmanageable venture for most patients and caregivers. Hence, another way of
bringing practical yet specialized rehabilitation techniques, i.e., those that are smart
and portable, close to the patient, is a significant unmet need.
The assessment, treatment, and rehabilitation of PD are all interrelated and
require integration in a potentially seamless manner to provide treatment optimiza-
tion and thereby improve the quality of life for these individuals. This chapter
explores the up and coming assessment, treatment, and rehabilitation techniques
that are currently being explored for application in individuals with PD as one such
scenario of a new frontier. Laboratory-based technologies in addition to portable
and wearable systems for mobility assessment are discussed. Finally, a new meth-
odology based on virtual reality (VR) for generating real-world scenarios within
which patients can be assessed for medical management optimization and poten-
tially for providing portable and targeted rehabilitation is explored.
In summary, the current needs of rehabilitation for PD are:
1. Subjective measures for recording physical/motor disability that are currently

performed using clinical scales need to be replaced by objective instrument-
based techniques. Such techniques would be portable, repeatable, and
standardized.
2. Rehabilitative interventions are nonspecific and do not take into account the type
of deficits that these patients face, namely strategy in performing activities of
daily living. This needs to change.
3. An intelligent rehabilitation program would therefore be individualized to the
disease, the stage of disease, and the patients own perceived disability.
4. Assessment of the disability would be carried out within such an environment
and based upon the detected performance difficulty, a rehabilitative strategy
would be implemented.
Currently Used Scale-Based Assessment Techniques
The clinical assessment and monitoring of PD is challenging partly because of the

complexity and heterogeneity of the disease. The methods used rely heavily on the
clinicians experience, which is inherently subjective and qualitative. There are a
few commonly used assessment and monitoring techniques such as clinical rating
scales, patient self-report, and patient diaries.
Clinical scales are used during the patients visit and provide a quick overview
of the current disease status. The most common clinical rating scale for PD is the
Unified Parkinsons Disease Rating Scale (UPDRS). The UPDRS is the current
gold standard for assessing and monitoring PD symptom severity. Part II is a sub-
jective scale that assesses the impact of some of the activities of daily living. Part
III of the UPDRS is a 31-item section used to rate motor symptom severity [15].
More specifically, the UPDRS contains an integer rating scale (04) to assess
severity. A rating of 0 would be normal whereas a rating of 4 would indicate
severe disability.
This assessment approach has several weaknesses that may hinder proper clini-
cal care. The limited scoring range of the UPDRS decreases the sensitivity of the
scale to detect smaller symptom changes. The UPDRS maintains intrinsic subjec-
tivity and low inter-rater reliability, which limit its value as a measure in clinical
diagnosis and research [10]. Individuals with PD who have more advanced disease
tend to have fluctuations in their motor symptoms. The UPDRS, performed in the
clinic, provides only a snap-shot of these fluctuations and may not reveal the true
functional disability they experience while they are at home. In the context of this
chapter, the main weakness of the scale is its inability to correlate Part II with Part
III.That is, the functional impairment to the supposed activity of daily living due to
the motor disability is not what is actually assessed during the motor examination.
For example, the finger tapping task does not accurately reflect the ability to do up
buttons, nor does the foot tapping task reflect leg mobility while standing or walk-
ing. In fact, the motor assessment is grossly incomplete and does not provide any
resolution for important components such as balance, walking, and postural changes
during goal-directed task performance. Therefore, how walking changes might
affect a person going from a carpeted floor to tiles or the impact of turning in the
kitchen during a cooking task, are not assessed. Indeed, the patient-driven part II
and the clinician-performed part III do not give the clinician any reproducible way
to titrate medical or surgical treatment. It certainly does not help to design a reha-
bilitation program that would target the deficits that the patient has identified in part
II of the UPDRS.The clinician then targets part III while the expectation is that
somehow, directly or indirectly, an improvement in this rating would automatically
translate to an improvement in some aspects of part II.
Patient self-report and writing diary cards take place outside of clinic, usually in
the patients own home. The benefits of these techniques are that they can be com-
pleted in an environment in which the patient is comfortable and provide a more
detailed perspective of how they are functioning. However, these methods are sub-
jective and rely on the patients understanding of their own symptoms. Self-report
relies heavily on the patient recalling all symptoms experienced from memory.
Introducing diary cards greatly enhances self-report. The many limitations of using
diary cards, especially in patients that have motor and possibly some degree of cog-
nitive deficit are obvious. Patient compliance, recall bias, and fatigue from diary
writing are just some of the issues facing this method of recording the impact of
PD-related motor disability on daily function. However, the most important issue in
home-based assessments by the patients themselves regarding their function is the
lack of an objective motor state of the patient. Therefore, although these methods
may be somewhat more realistic in their ability to generate data that indicate real-
world deficits, it is not paired with the much-needed objective clinical assessment.
The gap and disconnect therefore continues to exist.
In summary, the scale-based assessment techniques currently used:
1. Are short and often not reflective of the patients real-world experience of func-
tional impairment
2. Often differ from what patients may be like in their own home compared with in
clinic assessments
3. Hold an inherent disconnect between the disability perceived by patients during
the performance of the activities of daily living (including those such as crossing
the street, putting clothes in the washing machine, etc.) and the motor rating
made by the clinician in the clinic
4. Are poor in their accuracy and the ones that may be more accurate are not carried
out with a simultaneous motor assessment such as PD diaries and self-report
5. Lead to a state where management decisions are being made based largely on
inaccurate and often nonrepresentative data, which reduces functional therapeu-
tic optimization.
Current Technology-Based Assessment Techniques
Objective and quantitative monitoring of PD motor symptoms has the potential to

address the unmet needs identified with the current scale based tools. They can pro-
vide a measurable and quantitative set of information of the current disease state.
These measurements can be accurately taken serially and allow the assessment of
the effectiveness of various therapeutic interventions. Accuracy of symptom
measurement in individuals with PD is clinically imperative when deciding on

treatment options and measuring their effect. Advancement in technology has pro-
vided the capability of monitoring human kinetics objectively and quantitatively.
Various technology assessment tools have been developed and implemented for PD
symptom monitoring. These assessment tools can either be laboratory-based or
more portable for at-home use.
Laboratory-Based Methods
Vicon System
The Vicon system is an optical motion capture system that uses multiple cameras
and body segment markers to capture body movements in 3D (Fig.10.1a). Each
Vicon camera is surrounded by a ring of light-emitting diodes (LEDs) that emit
infra-red light (Fig.10.1b). Infra-red reflective markers are attached to the individ-
ual on various body segments, the suggested number of markers to be used is 3538
(Fig.10.1c). As the participant walks in the capture zone the camera LEDs emit
infra-red light that bounces off the body markers and is picked up by the Vicon
Fig. 10.1(a) The measurement set up for the Vicon camera system. (b) The standard Vicon
F40 camera, reproduced with permission from MocapHouse [20]. (c) The standard infra-red
reflective body marker positions required for accurate measurement [20]
Fig. 10.2 The Zeno

walkway carpet system
used to monitor gait
performance in real time,
image provided courtesy of
Protokinetics
cameras. Each Vicon camera sends a 2D image to the MX Ultranet HD box every
fraction of a second. The Ultranet box uses trigonometry to estimate the position of
each marker in 3D; thus, each marker needs to be visible by at least two cameras at
one time. The system is highly accurate and is able to detect movements within
1mm at 250 frames per second [16, 17].
Das etal. [18] used the Vicon motion capture system in a population of individuals
with PD and found a high correlation with the UPDRS.Many cardinal features of PD
can be captured and analyzed using the proprietary software that is provided with this
system. Such as tremor, bradykinesia, gait and postural stability [18]. Mirek etal. [18]
explored the difference in gait parameter measures between PD and healthy control
participants. It was found that the Vicon system was able to accurately detect a reduc-
tion in several gait measures in PD and control participants.
The main drawback to this system is the lack of portability. The system requires
a large area for set-up and confines the individual to a round area where the cameras
are able to record. If the individual moves outside the boundaries, the system will be
unable to track their movements. The required number of body markers makes
assessments with patients difficult because placing all the required markers is very
time-consuming. The Vicon system is one of the more expensive motion capture
technologies on the market, which limits the number of research laboratories that
may be able to use it.
ait Analysis Carpet System

G
Various gait assessment tools have been developed to quantify gait parameters while
individuals walk across a pad with sensors. The Zeno walkway (Zenometrics
LLC, Peekskill, NY, USA) is a 7-m-long carpet with embedded pressure sensors
(Fig.10.2). The sensors detect each footfall made by the participant while walking
and relay the information to a computer for analysis. The software system captures
each footfall on the Zeno walkway and provides accurate measurement of various
spatial and temporal gait measures such as step length, stride velocity, single sup-
port time, double support time, and cadence, among many others [21, 22]. The sen-
sor recording hardware is common to two main analysis software platforms,
GaitRite and PKMAS. The validity and reliability of both software analysis
systems has been shown in many studies to date [10, 23, 24]. Van Uden and Besser
[24] examined the testretest reliability of the Zeno walkway over a 1-week period.
An intra-class correlation coefficient of over 0.90 was obtained for all spatial and
temporal gait measures [24].
The Zeno walkway system allows the participants gait performance to be quan-
tified in an efficient manner, allowing post-hoc analysis to be conducted [4]. The
ability to extract gait parameters during a patients walk in real time has advanced
the way in which treatment regimens are assessed. Obtaining these gait parameters
can elucidate the characterization of disease [25, 26], the prediction of falls [27],
and contribute to defining gait patterns in the progression of PD [28].
The main drawback to the Zeno walkway system is that it only provides 7m of
walking distance for analysis, which may not be a good representation of the gen-
eral walking of the patient. Furthermore, a recent study examined the potential
Hawthorne effect that arises while using the gait carpet [29]. It was found that
patients walked significantly better when they knew they were being examined on
the gait carpet [29]. The gait carpet system also needs to be used in a laboratory set-
ting and is not a viable option for at-home monitoring.
In summary, laboratory based assessment techniques:
1 . Are highly accurate and are able to record very reliably at a high resolution
2. Require the presence of a gait laboratory
3. Are not portable and need specialist expertise to be able to use
4. Are expensive and because of their very nature are primarily confined to aca-
demic institutions for gait and biomechanical research
Portable andMobile Methods
Tele-monitoring is the remote monitoring of patients who are not at the same loca-
tion as the health care provider. The ability of technology to provide a detailed
objective and quantitative review of PD symptoms is making at-home monitoring a
possibility. At-home assessment tools provide a method of observing patient symp-
toms on a continuous long-term basis. In this way, health care standards would
improve and the cost would decrease. Patel etal. [30] developed a system that
allowed tracking of PD motor fluctuations in the persons own home. The PD par-
ticipants wore eight sensors that were connected to a web-based platform that sent
data directly to the health care center. This system provided only details about motor
fluctuations, but this method could be applied to other technologies to advance at-
home monitoring of PD.Several of the systems currently available for home moni-
toring are reviewed briefly.
Kinect
The Kinect is a motion-sensing input device that provides full-body 3D motion
capture (Fig.10.3a). This system is used to directly control computer games through
Fig. 10.3(a) The standard Kinect system for Xbox One developed by Microsoft, image
from Wikimedia commons [32]. (b) The 20 key points that the Kinect sensor uses to generate a
general skeleton for tracking users
body movement. One main strength of this system is that it is affordable and can be
easily purchased. This system can be quickly set up anywhere and does not require
markers to be placed on the body. Cancela etal. [31] developed a method for track-
ing gait performance in healthy subjects. They were able to track several features of
the gait cycle with minimal error. Galna etal. [17] tested the Kinect system in 15
individuals diagnosed with PD.This group found that Kinect was able to track gross
body segment movements very well, but fell short when attempting to track finer
movements (such as toe tapping and tremor) [17]. Kinetic can currently be used to
track bradykinesia quite well [17].
Currently, the system estimates the position of 20 anatomical landmarks
(Fig.10.3b). This estimation needs to be much more accurate and should have the
capability to optimally adjust these landmarks for personalized use. The Kinect sys-
tem is not portable, once it is set up the individual can only move a certain distance
away and to the side of the sensor. However, this system is a viable option for at-
home UPDRS assessment of patients. The patient can perform various motor
assessment tasks in their own home while in front of the Kinect system.
Optotrak
Optotrak is a three-dimensional camera system used to track the motion of
infrared emitting diode (IRED) markers (Fig.10.4a). The IRED markers are
placed on body segments of participants and the Optotrak camera tracks the
movement of the markers in real time. The camera unit has a limited range within
which participants have to stay for proper tracking (Fig.10.4b). Optotrak has
addressed this limitation and allows up to eight camera units to be used, which
greatly expands the area of assessment. The Optotrak software provides kine-
matic data that are clinically relevant to individuals with PD, such as gait mea-
sures, tremor detection, and bradykinesia.
A recent study compared the gait measures extracted from the Optotrak system
and the Kinect system. The agreement between the body measurements of the two
systems was assessed using an intra-class correlation coefficient. It was found that
gait parameters obtained from Kinect match well with the Optotrak system [31].
The Optotrak system is expensive, especially when acquiring more than one camera
unit. The area of tracking for one camera unit is not sufficient for accurate body
assessments and several units would need to be used for proper assessment.
Although the Optotrak system has the advantage of being able to track finer move-
ments, technology is quickly advancing and less expensive options may become
available.
earable Inertial Sensors

W
Wearable inertial sensors are commonly used to measure motion and physical activ-
ity associated with daily living [34, 35]. The small size and ease of use make them
ideal for placement on various body segments for real-time portable capture of
multi-segmental body movements. The gaming and film industry has made use of
these sensors in the design and development of their products. The clinical applica-
tion of these sensors is still in its infancy but this application is quickly garnering
attention.
Fig. 10.4 The Optotrak system from Northern Digital allows real-time tracking of participants
wearing infrared emitting diode markers. (a) The camera system used to track the markers, up to
eight camera units can be used simultaneously, image provided courtesy of Northern Digital Inc.
(b) The area of tracking for each camera unit, image provided courtesy of Northern Digital Inc.
There are three classes of inertial sensors. The combined signals of all three
sensors have been used to accurately determine the temporal and spatial measures
of body movement. The sensors are:
1. Accelerometers: measure the acceleration of linear motion. According to

Newtons second law acceleration of linear motion is the force acting on a mass.
Accelerometers can be used to assess balance, gait and classification of

movements.
2. Gyroscopes: measure the angular velocity giving information about orientation
and rotation. These sensors allow recognition of movement within a 3D space.
3 . Magnetometers: measure the precise movements of the body in the earths mag-
netic field.
Wearable inertial sensors have been useful for application in assessing MDs [1,
3638]. Chang etal. [39] developed a fall detection system by using three sensors
(containing an accelerometer and gyroscope) placed on both feet and the waist. This
study was able to accurately predict fall risk in various terrains including: motion-
less, walking, running, walking up an incline and climbing stairs [39].
Several studies have compared the UPDRS with the inertial sensors [40, 41].
Salarian etal. [41] found a high correlation between the total UPDRS and the data
collected from three sensors in ten PD participants. This group was interested in
monitoring ambulatory activity in a population of individuals with PD.PD often
presents as an asymmetric disorder, one side of the body being more severely
affected than the other. SantAnna etal. [40] assessed asymmetry of both lower and
upper limbs during ambulation. The study used four sensors (both legs and wrists)
to track asymmetry in 15 PD participants. They found a strong correlation (0.949)
between the asymmetry scores of the UPDRS and the asymmetry values from the
body sensors [40].
The inertial sensors are able to detect very fine movements, which patients and
clinicians do not notice. It is often argued that if patients do not notice the small
changes in the parkinsonian state then employing these sensors is overkill.
However, this attribute could be beneficial for early diagnosis of PD by providing
data that the clinical scales cannot detect [42]. Furthermore, the ability to detect
such fine changes in the parkinsonian state may be beneficial in evaluating the effi-
cacy of new treatments. These claims have to be validated in terms of making a
difference in the diagnosis and treatment of patients. As such they remain predomi-
nantly in the research domain.
Kinesia
The Kinesia system (Cleveland Medical Devices Inc., Cleveland, OH, USA) is
marketed as a clinical deployable technology that tracks tremor and bradykinesia in
individuals with PD.This device is worn on a single finger, making the device very
compact (Fig.10.5). It has three accelerometers to track linear acceleration and
three gyroscopes to measure angular velocity [43]. The device has shown testretest
reliability over clinic-based assessment techniques [44].
Motor symptoms of PD affect the entire body, which is a major concern with the
Kinesia device. While it may be useful for detecting tremor and bradykinesia in the
hand, it can provide limited detail about the symptom severity in the contralateral
lower limb. Furthermore, PD motor symptoms are commonly asymmetric and affect
one side more than the other [45, 46]. The motor symptoms may present bilaterally,
but the severity of the symptoms may not be symmetrical [45]. The asymmetry of
the disease represents another drawback for the Kinesia system.
Fig. 10.5 The Kinesia

One sensor, which is
placed on the fingertip and
can monitor motor
symptoms of PD, image
provided courtesy of
Kinesia
otion Capture Suit

M
A full body sensor system is an appealing assessment technique that is gaining
interest in the PD research field. Several motion capture suits have been used for
research from animation companies such as Xsens and Synertial (Fig.10.6a).
These systems contain 1619 inertial sensors that are located all over the body and
provide information about all body segments (Fig.10.6b). Research with the motion
capture suit systems have shown reliability and validity at monitoring human move-
ment [37, 47, 48]. These motion capture systems allow assessments to be completed
outside of clinic and in the patients own home environment.
Motion capture suit systems provide large quantities of data that need to be prop-
erly assessed for clinical impact. The main concern of these types of systems is the
ability to extract relevant features. As previously mentioned, these sensors can
detect small changes in body movements, but extracting these data for clinical
application is not yet possible.
In summary, portable and mobile assessment methods:
1. Can be divided into those that are cheap and easy to implement but have lower
resolution and those that provide very accurate information but large data sets.
2. Can be divided into sensor systems that utilize single or a small number of sen-
sors for monitoring global body movements versus those that can monitor
whole-body responses. To monitor single body parts (such as one limb) or to
generate a global mobility score, single sensor systems may have some value.
However, if a more detailed and whole-body measurement is required, then a
multi-sensor system including body suit-type systems is more useful.
3. Are now becoming very affordable to buy, but lack the analysis software support
to directly help clinicians to make management decisions.
4. Generally remain in the research domain, although vigorous efforts are on-going
to make them clinically useful.
Fig. 10.6 The Synertial motion capture suit employs 17 sensors each containing a magnetometer,
accelerometer, and gyroscope. The set-up time is minimal as the sensors are pre-placed onto the pants
and top. (a) The Lycra motion capture, which houses 17 inertial sensors, reproduced with permission
from LHSC [49]. (b) Diagram depicting the placement of the 17 inertial sensors on the body
Rehabilitation Approaches inCurrent Use
Despite optimal pharmacological treatment, the motor impairments in individuals

with PD continue to deteriorate, leading to further impaired mobility [50]. The
implementation of rehabilitation therapy is used as adjunctive treatment for trou-
bling motor symptoms of PD.A multidisciplinary management plan for PD that
incorporates both medical and rehabilitation therapy should be implemented to bet-
ter manage the complex MD [51]. Medical management of PD is well understood.
Additionally, several studies have shown supportive evidence for the implementation
of rehabilitation techniques for PD management in combination [52]. Current reha-
bilitation techniques are discussed.
Rehabilitation Techniques forPD
Currently, physical therapy is the most widely used rehabilitation technique for the
management of PD, focusing on improvements in gait, physical capacity (i.e.,
strength and endurance), posture, and balance [52]. Morris [53] was to our knowl-
edge the first to describe a model of physical therapy management for individuals
with PD.He proposed that the ability to move is not lost in PD; rather, it is an activa-
tion problem [53]. Morris suggested that the deficit in activation forces individuals
with PD to rely on cortical control mechanisms to initiate movement [53]. The

model used task-specific strategies such as gait, sitting down, and turning in bed.
The model made use of external cues such as visual, auditory, and proprioceptive
stimuli (rocking the body from side to side) [53]. In a healthy human brain, the BG
are related to the triggering of internal cues for performing a desired motor function
[54, 55]. In PD, such internal cued movements may be significantly affected because
of the complex corticalbasal ganglionic dysfunction [54, 56, 57]. It is also possible
that these cues are not used to select and modify the required motor response cor-
rectly. The results may be seen as a disruption of normal motor function in appen-
dicular and axial systems, including gait. In this context of PD, the external cues used
allow alternative brain circuits to be recruited, bypassing the defective BG circuitry
[54]. Verschueren etal. [56] studied the influence of extern cues on motor task
performance In a population of PD participants, who were trained to perform a motor
task that provided external feedback during the performance of the task. The PD
participants were then asked to complete the motor task while blindfolded, eliminat-
ing the external feedback. It was found that performance was significantly reduced in
PD participants when performing the task blindfolded [56]. It was concluded that
providing the external feedback during the performance phase allowed PD partici-
pants to partially bypass the BG [54, 56]. A recent review of literature highlighted
this fact that external cues access alternative neural pathways that remain intact in the
PD brain, such as the cerebello-thalamo-cortical network [58].
The ability to put together a temporal order of task performance is thus very dif-
ficult for patients with PD, leading to task failure or freezing. Such difficulties can
be seen in all aspects of motor performance. To address this, the training model dis-
cussed above also used cognitive movement strategies, which break complex move-
ments into separate components [53]. Individuals with PD are trained to perform
each component separately and to pay conscious attention to their execution. Morris
[59] provided some updates to the physical therapy model focusing on adjusting the
rehabilitation strategy based on years of diagnosis. Morris suggests that the tasks
used in newly diagnosed individuals should be different from individuals who have
been diagnosed for more than 5 years. This is because of the progressive death of
substantia nigra cells, despite optimal pharmacological intervention [59].
A recent meta-analysis, conducted by Tomlinson etal. [13], examined the
effectiveness of physical therapy in 33 randomized clinical trials with over 1,500 PD
participants. Tomlinson etal. [13] found that physiotherapy intervention provides a
transient benefit in the treatment of PD, regardless of the physiotherapy intervention.
However, in the long term, benefit from physiotherapy remains elusive [13]. This
meta-analysis states that an issue with current studies focused on physical therapy for
PD is that outcome measures are drastically different [13]. They suggest employing
relevant, reliable, and sensitive outcome measures, which hints at both measurement
of the physical improvement using reliable tools (such as the systems mentioned
above), but also functional improvements in the tasks that actually matter to the
patient. Indeed, an improvement in the endurance or strength in a PD population may
not matter to the performance of a task such as doing the laundry or crossing the street.
Another issue with current physical therapy models for PD stems from the
symptomatic constraints in PD such as rigidity, bradykinesia, freezing, and impaired
cognitive processing. Traditional rehabilitation techniques are not suitable for indi-
viduals with PD.King and Horak [60] developed an exercise program that was more
suited to individuals with PD.However, the program was not adaptable to the vari-
ous stages of the disease. A rehabilitation program, with functionally relevant tasks,
that has direct applicability to the activities of daily living is a necessity. Providing
a single space for rehabilitation for every patient is not ideal, as some patients may
perform better in the contrived space [29]. Currently, PD patients are enrolled in
standardized rehabilitation programs, in a contrived space, to carry out tasks that
may not be applicable to their everyday life.
In summary, currently used rehabilitation techniques used for neurological dis-
eases, especially PD:
1 . Are nonspecific to the actual condition and stage of disease.

2. Are not targeted toward directly assessing and improving the functional impair-
ments faced by the patient in daily life. Instead, nonspecific rehabilitation such
as relaxation, stretching, cardiovascular fitness, and weight training are
performed.
3. Could be more accurately assessed by using the sensor technologies discussed
above to record out-of-laboratory mobility.
4. Are conducted in environments and contexts that are not yet individualized to
the deficits of the disease.
argeted, Disability-Based Rehabilitative Approaches

T
toParkinsons Disease
There are very few practical and useful devices available on the market for the spe-
cific treatment of PD symptoms. The two reviewed below are the only ones that
have been adopted to some degree by patients and physicians. In the first instance,
sensor technology is employed to measure a specific symptom, namely tremor, and
a made-to-measure treatment is provided. In the second, a specific external cuing
device is used to improve gait.
Active Cancellation ofTremor Device
The development of technologies that counter specific symptoms of PD, although

not a cure, help to improve the quality of life of those affected. Tremor is one debili-
tating motor symptom of PD that affects daily activities. Tremor oscillates at a spe-
cific frequency range of 215Hz, which can be measured using inertial sensors [61,
62]. The lower frequencies are indicative of a more severe tremor, whereas higher
frequencies relate to mild tremor. The ability to measure the degree of tremor has
led to the development of tremor cancellation devices. These devices measure the
directionality of the tremor and move in the opposite direction to stabilize it.
Pathak etal. [62] designed a spoon that counteracts tremor in the hand, improving
utensil accuracy for individuals with mild to moderate tremor (Fig.10.7b). The
Fig. 10.7 Examples of assistive tremor cancelling devices. (a) The GyroGlove is worn to
reduce hand tremor when the patient requires accurate hand movements, image provided courtesy
of GyroGear. (b) LiftLabs tremor cancelling spoon, which improves accuracy by opposing
tremor caused by disease, reproduced with permission from Kozovski [64]
study examined 15 participants diagnosed with essential tremor. The handheld

device significantly reduced spoon tremor rated by the UPDRS and accelerometer
data [62]. The main strength of this device is the non-invasive nature of the interven-
tion; it is comfortable and easily adopted by its users. However, this device has not
proven useful for individuals with severe tremor [62].
The GyroGlove is a new technology developed by Faii Ong that reduces
tremor continuously (Fig.10.7a) [63]. The glove is in development with a patent
pending, but has the potential to reduce hand tremor in individuals with PD through-
out the day. The glove makes use of gyroscopes that resist hand movement and
thereby reduce tremors. However, tremor is often multijointed and involves the
elbow and shoulder as well.
Laser Cane
Freezing of gait (FOG) is a common symptom in individuals with PD that shows

little or no response to pharmacological and surgical interventions [65]. FOG has
been estimated to affect 32% of all individuals diagnosed with PD [66]. Several
auditory and visual cues have been used to counter FOG episodes in individuals
with PD.Several studies have demonstrated that when PD participants walk across
parallel lines on the floor there is an improvement in their FOG episodes [6769].
The U-Step Laser Cane is a walking aid that projects a red laser line across the
walking path, making use of the parallel line visual cue (Fig.10.8). Donovan etal.
[70] used the Laser Cane in a population of 26 individuals with PD and found a
significant improvement in FOG after 1 month of usage. McCandless etal. [71]
compared the Laser Cane with several other auditory and visual cueing interven-
tions in a population of 20 individuals with PD.The Laser Cane was found to be the
most effective cueing intervention for correcting FOG episodes [71].
In summary, disability-based rehabilitative approaches:
Fig. 10.8 The Laser

Cane from U-Step is
used to correct freezing of
gait episodes by use of an
external laser line cue,
image provided courtesy of
U-Step
1. Are able to provide patients with temporary relief of the specific motor symp-
toms that they may be experiencing.
2. Require continual battery replacements and may leave the patient without treat-
ment if replacements are not kept ready.
3. Are adjunctive therapies to medical intervention and may not provide benefit to
every patient.
4. Are affordable assistive devices, which makes the use of them possible in
patients needing adjunctive symptom relief.
Future Technology-Based Rehabilitation ofParkinsons Disease
Technology will play an increasingly important role in the assessment and in the
treatment of MDs. As discussed above, inertial sensors are currently providing real-
time feedback on various PD symptoms, allowing treatment regimens to be indi-
vidualized more efficiently. Physical therapy is also an important factor for the
management of PD progression. Physical therapy techniques help to maintain
mobility in addition to the treatment provided. As previously discussed, current
Fig. 10.9 A simplified taxonomy of virtual reality systems
physical therapy techniques are suitable for individuals not diagnosed with PD, use
irrelevant tasks, and are performed in contrived spaces. These factors may contrib-
ute to the ineffectiveness of these programs in managing motor dysfunction in the
PD population. Construction of ecologically valid situations is a necessity when
attempting physical therapy for individuals with PD.
As discussed through the chapter, we have now reached a point where the ability
to objectively assess the physical disability in the patient can now be supported
using a variety of technologies. However, the questions that remain are:
1. How do we carry out these assessments in what would be termed ecologically

valid environments?
2. How do we provide rehabilitation that then helps patients to optimize their perfor-
mance within these and the many other environments that we face in our daily life?
Virtual Reality
Virtual reality (VR) may be an optimal tool for a more individualized rehabilitation
strategy for individuals with PD.VR is the interaction of an individual in the real
world with a virtual environment, which has been generated by a computer. VR can
be non-immersive or immersive depending on the technology used (Fig.10.9). VR
makes use of visual, auditory, and haptic inputs, and the virtual environment pro-
vides feedback about performance. VR allows an individual to safely explore their
environment independently. This technology would provide a flexible and scalable
means of implementing realistic and functionally relevant tasks. VR is able to simu-
late realistic environments that would be too expensive and time-consuming to rec-
reate in the real world for assessment and rehabilitation purposes. VR would address
the concern of current research studies that lack contextually relevant stimuli, mak-
ing generalizability difficult.
1. Non-immersive VR: is generally screen-based and pointer-driven. This type of

system requires the use of hand-held devices (cell phones, portable games con-
soles) and monitors (desktop computers).
2. Partially-immersive VR: provides the user with an augmentation of the real
environment within a virtual environment.
3. Fully-immersive VR: provides users with three-dimensional virtual scenes.
Fully immersive VR allows natural interactive behaviors to take place while

physiological measures are taken such as body segment movements or brain activ-
ity. This allows researchers to address several questions in a controlled environment
while recreating real world situations. Furthermore, a fully immersive VR system
would engage the sensorimotor system more fully than a simple stimulus, increas-
ing the psychological and behavioral responses. For example, gait difficulty is a
major concern in PD as it tends to worsen as the disease progresses. Fully immer-
sive VR allows motor activation to occur during the simulated experience as these
environments can allow patients to navigate and physically interact with virtual
objects. Fully immersive VR allows the researcher to present multiple stimuli at one
time that may not be present in a natural environment. Furthermore, changes can be
made to these stimuli at short notice.
Nintendo Wii forRehabilitation inPD
A recent study examined the use of the Nintendo Wii for non-immersive VR
rehabilitation in a PD population. The Nintendo Wii is a force platform that pro-
vides information on force distribution and center of gravity (Fig.10.10) [72]. Dos
Santos Mendes etal. [72] recruited 16 individuals with PD and 11 controls for the
7-week study. Each participant completed ten training games at each visit. They
found that the ability of PD participants to learn, retain, and transfer performance
improvements depends on the demands, specifically cognitive demands [72]. It was
noted that PD participants were able to transfer motor ability to similar untrained
tasks [72].
Gonalves etal. [73] tested the effectiveness of the Nintendo Wii for VR
rehabilitation in 15 individuals with PD.Each training session lasted 40min, occur-
ring twice a week for 14 sessions. They found a significant improvement on the
UPDRS, an increase in walking velocity, and a reduced number of steps during
walking [73]. There was no follow-up with patients in the study; the assessments
were conducted before training and immediately following training. Moreover, this
study failed to demonstrate the appropriate retention of motor training, which is an
important factor in physical rehabilitation techniques.
The use of the Nintendo Wii has demonstrated potential therapeutic advantage
with rehabilitation in individuals diagnosed with PD.The Nintendo Wii is
Fig. 10.10 The Nintendo

Wii balance platform
used for rehabilitation in
PD, image from
Wikimedia commons [74]
cost-effective, easy to use, and extremely portable. The potential for at-home use is
of great advantage with this non-immersive VR device. The drawback is that it is
stationary and does not allow patients to be ambulatory during training. Gait train-
ing is an important aspect to physical therapy from which individuals with PD
would benefit.
Immersive Virtual Reality forRehabilitation inPD
Research into the implementation of immersive VR for rehabilitation in PD is lim-

ited, only appearing in a few published studies. Mirelman etal. [75] developed an
immersive VR environment for gait training on a treadmill. Twenty individuals with
PD were required and instructed to avoid obstacles in the VR environment while
walking on the treadmill. The study lasted 6 weeks and the environment became
more challenging as the study progressed to increase adaptability in the partici-
pants. Following the 6-week study it was noted that the participants had a signifi-
cantly improved UPDRS score, gait speed, and stride length [75]. These improvement
effects were maintained for up to 4 weeks post-training, and a few metrics contin-
ued to improve [75]. This study has several limitations that should be mentioned.
The sample size and lack of a control group lower the impact of this study. The
ability to compare the training with a control group would rule out any potential
placebo or Hawthorne effect. Most importantly, improvement was observed and
recorded while on the treadmill only, which lacks ecological validity. Participants
must be able to ambulate and practice movement strategies in more realistic VR
environments.
Arias etal. [76] tested the validity of using fully immersive VR and virtual envi-
ronments for assessing PD motor symptoms in ten PD participants. Participants
were trained to perform a finger-tapping task in the real environment followed by a
virtual environment. An intra-class correlation and the mean difference between the
real and virtual finger-tapping test showed high reliability [76]. Immersive VR is in
its infancy and has limited implications for PD.Only a few studies have tested the
Fig. 10.11 Examples of virtual reality devices and a scenario. (a) The Google cardboard gog-
gles provide an affordable alternative to virtual reality glasses using a smart phone, image from
Wikimedia commons [78]. (b) Oculus Rift virtual reality headset, image from flickr creative
commons [79]. (c) An augmented virtual reality scenario for freezing of gait in PD, reproduced
with permission from Holmes [80]
application in a population of individuals with PD.Furthermore, the cost of these

devices is currently fairly high, making personal use unfeasible. However, immer-
sive VR is a promising rehabilitation technique that can provide a controlled, com-
fortable environment in which patients can complete ecologically valid tasks.
Augmented Immersive Virtual Reality Assessment andTreatment
Augmented immersive VR is the visual combination of the real-world environment

with computer generated imagery (Fig.10.11c) [77]. Instead of being immersed in
a complete virtually simulated world, augmented reality allows the subject to expe-
rience a different location while staying connected with reality [77]. This form of
VR allows for a more realistic virtual environment through which subjects can navi-
gate. A recent augmented VR method has been established for individuals diag-
nosed with PD.Garcia etal. [77] proposed a method by which patients experience
ecologically valid scenarios to navigate. The three scenarios that were established in
augmented reality were watering plants, shopping in a grocery store, and crossing a
busy street [77]. These scenarios were chosen as real-world situations in which
individuals with PD would find themselves.
The preliminary work clearly shows that it is now possible to design and construct
scenarios that allow the assessment of patients with disorders such as PD within
contextually relevant environments. This can be carried out using portable VR

devices (Oculus Rift, Google VR goggles, etc.) within a reasonable amount of
space (Fig.10.11a, b). Scenarios can be built to meet the major disability for the
patient and implemented in their area of residence. Based upon the deficits elicited,
a program can be designed, again in the same immersive environment, to provide
rehabilitation to these patients with interesting, increasingly complex environments.
Conclusion
When discussing the future perspective of complete care for individuals with PD it
is important to consider assessment methods, treatment techniques, and rehabilita-
tion strategies. It is clear that technology will play an important role in the future of
PD and other MDs in general. The ability to assess and monitor motor symptoms
objectively and quantitatively with technology is reaching a state of maturity where
portable, cost-effective methodologies are now becoming available. This will allow
current treatments to be better targeted for each individual and more accurately test
the efficacy of new treatments. Rehabilitation is a feasible adjunctive therapy for
PD that maximizes the functional ability of each patient according to their disease
state. Developing a program that employs ecologically valid scenarios in a comfort-
able environment for assessment will greatly enhance the effectiveness of the tech-
nique. When combined with objective measurement tools, the assessment of patient
deficits in active scenario-based settings can provide a true picture of the real-world
disabilities faced by patients in daily life. The same techniques can then be employed
to generate a rehabilitative program that is individualized and targeted. The future
of PD care relies on such individualized and optimized treatment and rehabilitation
techniques that make use of advancing technology.
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Index
A PSP, 4850, 58
Accelerometers, 167 serotoninergic drugs, 49
Acetylcholine, 144, 148 speech therapy, 5658
Activities of Balance Confidence (ABC-6) Auditory and visual cueing device, 16
Scale, 102 Auerbachs and Meissners myenteric
ADCY5 mutation, 108 plexuses, 6
Adenosine A2A receptor, 6 Augmented immersive VR, 178, 179
Aerobic exercises, 118 Autoimmune chorea, 110
Alternating motion rate (AMR), 91 Automatic movements, 1
Alzheimers disease, 2
Amantadine, 12
American College of Sports Medicine B
(ACSM), 21 Balance
Anticholinergic (ACH) drugs, 12 dystonia, bradykinesia and rigidity, 115
Antiparkinsonian drugs, 9 multifactorial, 117
Apparent diffusion coefficient (ADC), 10 BarryAlbright Dystonia Scale, 146
Apomorphine, 11 Benign hereditary chorea (BHC), 108
Aquatic therapy, 143 Benzodiazepines, 98
Ataxia, rehabilitation Beta-hemolytic Streptococcus, 110
adding extra weight to exercises, 88 Bilateral vascular hemiballismhemichorea,
motor rehabilitation, 8387 111
prospects for, 8990 Bimanual intense therapy, 142
speech and voice therapy, 9093 Biperiden, 12
sports activities, 8889 Blepharospasm, 67, 7374
vestibular rehabilitation exercises, 8788 Botulinum toxin (BT) therapy, 70
virtual reality, 87 Botulinum toxin type A (BTXA), 99
Ataxic cerebral palsy, 136137 Bradykinesia, 1, 8, 168
ATP7B gene, 107 dystonia and rigidity, 115
Attention deficit hyperactivity disorder people with HD, 117
(ADHD), 108 Brain-derived neurotrophic factor (BDNF), 20
Atypical parkinsonism (APD), 45, 5156 BurkeFahnMarsden Movement Scale, 145
CBD, 50, 51
corticobasal syndrome, 5961
MRI abnormalities, 49 C
multiple system atrophy, 4647, 5658 Catechol-O-methyltransferase (COMT), 11
Parkinson-plus syndrome, 45 Cerebellar ataxia, 85
physical therapy, 5156 Cerebellar Purkinje cells, 98

DOI10.1007/978-3-319-46062-8
184 Index
Cerebral palsy (CP), 130131 DRPLA gene, 109

Cerebrovascular disease, 109 Drug-induced parkinsonism (DIP), 9
Childhood Duodopa pump treatment, 158
dystonia, 145, 148 Dysarthria, 25, 110, 121, 123
MDs, 130 hyperkinetic, 120
motor disorders, 129 Dyskinesia, 1
Children Dyskinetic CP, 136, 144145
CP, 131, 138141 Dysphagia, 90, 92, 110111
diplegic CP, 140, 141, 143 Dysphonia, 25
dystonia, 147, 149 Dystonia, 7178, 147, 148
GMFCS, 141 adjuvant drugs, 71
hemiparesis, 135 after central nervous system trauma, 78
hemiplegia/diplegia, 140 antidystonic drugs, 70
in MDs, 129 antidystonic treatment, 70
spastic and dyskinetic types, 137 ballistic movements, 145
spastic CP, 141143 BarryAlbright Dystonia Scale, 146
spastic quadriplegia, 134 causes of, 145
spasticity, 140 childhood, 145, 146
unilateral CP, 142 classification, 147
Chorea course of, 68
acanthocytosis, 107 cranial, 67
altered musculoskeletal alignment, 117 description, 67
causes, 106 differential diagnoses, 68
hypokinesia rigidity, 118 Global Dystonia Rating Scale, 147
paralytica, 111 hypertonic, 145
patients with refractory, 116 idiopathic, 68
Choreoathetotic CP, 136 modifiers, 69
Chromosome 9 open reading frame 72 muscle hyperactivity, 67
(C9ORF72), 45 parkinsonism, 68
Constraint-induced movement therapy, 142, pathophysiology, 68
149 rehabilitation
C9orf72 disease, 108 blepharospasm, 7374
Corticobasal degeneration (CBD), 45, 50, 51, cervical, 7273
56, 59 laryngeal and pharyngeal, 7475
Corticobasal ganglionic degeneration, 9 methods, 71
Corticobasal syndrome (CBS), 5052, 55, 56, non-focal, 7778
59, 60 structural aspects, 71
Cranial tremor score, 102 task-specific, 7577
CV2/CRMP5 antibodies, 110 special features, 6870
treatments
neuromuscular blocking agents, 148
D neurosurgery, 148
Deep brain stimulation (DBS), 13, 70, 99, 116, oral medication, 147
158 physical therapy, 148
Dementia, 51 Unified Dystonia Rating Scale, 147
Dementia with Lewy bodies (DLB), 45, 46,
59, 60
Dexterity training (DT) program, 100 E
Diadochokinesia, 92 Electromyography (EMG), 149
Diffusion-weighted imaging (DWI), 10 Essential tremor (ET)
Disability benign ET, 97
motor, 13 clinical features, 98
parkinsonism, 9 dexterity training, 100101
Dopamine agonists (DAs), 11 gait, 102103
Index 185
inertial loading, 100 early stage, 117118

massage, 101 globus pallidus internus, 116
non-pharmacological therapies, 97, 99103 late stage, 119120
pathological changes, 97 mid stage, 118119
pharmacological approach, 9899 pharmacological therapies, 115
rehabilitation, 99103 phenocopy, 109
resistance training, 99100 physical therapy, 116120
surgical approach, 99 pre-manifest stage, 116
transcutaneous electric nerve speech and language therapy, 120125
stimulation, 101 Hyperkinesia, 1
European Federation of Neurological Societies Hypertonia, 8
and Movement Disorder Society Hypertonia Assessment Tool, 145
(EFNS/MDS), 26 Hypokinesia, 1
Excessive movements, 1 Hypokinetic dysarthria, 2426
Exercise, 13, 1921 Hypokinetic HD subtypes, 118
F I
Fiber optic endoscopic evaluation of Instrumental Activities of Daily Living
swallowing (FEES), 93 (IADL), 30
Freezing of gait (FOG), 173 Intrathecal baclofen, 147
Frontostriatal system, 121 Istradefylline, 6
Frontotemporal lobar degeneration (FTLD),
109
FTLD-ALSC9orf72 disease, 108 K
Fully-immersive VR, 176 Kernicterus, 137
Kinect system, 164, 166
Kinesia system, 168
G Kinesiotape, 150
Gait analysis carpet system, 163164 Kx erythrocyte antigen, 107
Gait disorders, 119
disturbance, 111
GaitRite software, 164 L
Global Dystonia Rating Scale, 147 Language therapy, HD, 120125
Globus pallidus internus (GPi), 116 Laryngeal dystonia, 7475
Glottal hyperadduction, 123 Laser cane, 173174
Google VR goggles device, 179 Levodopa drug, 10
Gross Motor Function Classification System Lewy bodies, 7
(GMFCS), 139, 143 Lexico-semantic deficits, 121
Gross Motor Function Measure (GMFM), Light-emitting diodes (LEDs), 15, 162
138, 139 Lingual dystonia, 67
Guidelines for SpeechLanguage Therapy, 26
GyroGlove, 173
Gyroscopes, 168 M
MachadoJoseph disease (MJD), 90
Magnetic resonance imaging (MRI), 10
H Magnetometers, 168
Hemiballism, 109 Malnutrition, 111
Hemiplegia, 131, 133, 134 Mandibular dystonia, 67
Hippotherapy, 143 McLeod neuro-acanthocytosis syndrome, 107
Hoehn and Yahr (HY) stages, 3 Meige syndrome, 67
Huntingtons disease (HD) 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
cognitive deficits, 115 (MPTP), 7
death, 116 Microtubule-associated protein tau (MAPT), 45
186 Index
Misfolded alpha-synuclein, 6 Oral phase, 122

Monoamine oxidase B (MAO B) propargyl- Oromandibular dystonia, 67
amine inhibitors, 12 Oropharyngeal dysphagia, 2728
Movement Disorder Society (MDS), 1718 Orthopedic surgery, 144
Movement disorders (MDs), 1, 3 Orthoses, 143
clinical study, 157
Multicystic encephalomalacia, 133
Multiple system atrophy (MSA), 9, 4547, P
51, 52, 5460 Parkinsons disease (PD), 2, 2334
Muscle strengthening, 140141 adjunctive therapy, 159, 179
Musicians dystonia, 77 amantadine, 12
MX Ultranet HD box, 163 anticholinergics, 12
Myoclonus, 51 assessment, treatment and rehabilitation,
159, 160
clinical manifestation, 8
N clinicians expertise, 158
National Institute for Health and Clinical COMT inhibitors, 11
Excellence (NICE), 26 cueing via devices, 15
Neuro-acanthocytosis, 107 dance, 2122
Neurogenic orthostatic hypotension (nOH), 55 diagnosis, 910
Neuromuscular blocking agents, 144 disability-based rehabilitative approaches,
Neurotoxins rotenone, 7 172174
Nintendo Wii for rehabilitation, PD, 176177 dopamine agonists, 11
NKX2-1 mutations, 108 etiopathogenesis, 67
N-methyl-d-aspartate (NMDA) receptors, 11 exercise, 2021
Nondopaminergic motor features, 2 future directions, 22
Non-focal dystonia, 7778 gait analysis carpet system, 163164
Non-Huntingtons chorea, 110111 gait and cognition, 1517
BHC, 108 immersive VR, 177178
causes of, 105 individualized therapy, 158
C9orf72 disease, 108109 intelligent rehabilitation program, 160
description, 105 Kinect system, 164, 166
DRPLA, 109 Kinesia system, 168
neuro-acanthocytosis, 107 laser cane, 173174
nongenetic chorea, 109110 levodopa, 1011
rehabilitation, 105 manual activities, 20
dysarthria, 110 medical management, 170
dysphagia, 110111 monitor motor symptoms, 179
gait disturbance, 111 motion capture suit, 169
malnutrition, 111 multidisciplinary management, 170
multi-disciplinary approach, 111 neurodegenerative disorder, 5
postural instability, 111 neuroprotection, 12
Wilsons disease, 107108 Nintendo Wii, rehabilitation, 176177
Non-immersive VR, 176 nonmotor symptoms, 158
Nonmotor symptoms, 98 occupational therapy
Nonpharmacological therapy, 97, 99103 adaptations, 30
Nonprogressive congenital ataxia, 136 bradykinesia, 30
Nonverbal communication disorders, 2627 cognitive aspects, 31, 32
difficulties and abilities of patients, 30
family/caregiver support, 3234
O future directions, 34
Occupational therapy interventions, PD, 33 home environment, 32
Oculus Rift device, 179 motor aspects, 3031
Olfactory dysfunction, 10 physical and psychosocial difficulties, 30
Optotrak system, 166 progress of, 29
Index 187
Optotrak, 166 orthopedic surgery, 144

pathological features, 6 PEDI, 139
physical therapy, 13, 159, 175 physical therapy
physical/motor disability, 159 after physiotherapy programs, 140
physiotherapy, 1415 aquatic therapy, 143
portable and mobile methods, 164169 assessment of children, 140
posture, balance and falls, 1719 bimanual intense therapy, 142
primary pathophysiological cause, 158 constraint-induced movement
rehabilitation techniques, 170172 therapy, 142
scale-based assessment techniques, 160161 electrical stimulation, 141
speech therapy hippotherapy, 143
future directions, 29 muscle stretching, 140141
hypokinetic dysarthria, 2426 oral therapy, 144
language dysfunction, 26 orthoses, 143
languagespeech therapy, 23 sensory integration, 143
motor and nonmotor deficits, 23 VR training, 142
organic neurological dysphonia, 2324 sensory tricks, 150
oropharyngeal dysphagia, 2728 spastic diplegia, 132133
rehabilitation plans, 23 spastic hemiplegia, 134135
sialorrhea, 2829 spastic quadriplegia, 133134
verbal and nonverbal communication terminology, 129, 130
disorders, 2627 treatments, dystonia
surgery, 13 biofeedback, 149
technology-based assessment techniques, neuromuscular blocking agents, 148
161169 neurosurgery, 148
transfers, 1920 oral medication, 147
treatment, 14 physical therapy, 148
tremor device, 172173 postural reeducation, 149
Vicon system, 162, 163 Perinatal ischemic stroke, 135
VR, 22, 23, 175, 176 Periocular dystonia, 67
wearable inertial sensors, 166168 Perioral dystonia, 67
Parkinsonism, 68 Periventricular leukomalacia, 132
Partially-immersive VR, 176 Pharyngeal dystonia, 7475
Passive muscle stretching, 140 Physiotherapy, 103
Pediatric Evaluation of Disability Inventory PKMAS software, 164
(PEDI), 139 Pneumophonoarticulatory, 123
Pediatric movement disorders, 140144, Posterior subthalamic area (PSA), 99
147149 Postural instability, 111
biofeedback, 149150 Primidone, 98
CP, 130145 Progressive supranuclear palsy (PSP), 9, 45,
ataxic, 136137 4853, 56, 5860
dyskinetic, 136 Proteinaceous material, 6
mixed, 137
childhood disorders, 129
clinical evaluation, 145147 Q
constraint-induced movement therapy, 149 Quality of life (QoL), 2, 3
dystonia, 145147
GMFCS, 139
GMFM, 138139 R
hypertonic disorders, 129 Rapid eye movement (REM), 46, 47
hypokinetic disorders, 129 Rasagiline, 12
in adult, 129 Rehabilitation process
kinesiotape, 150 defined, 3
management, 137138 programs
neuromuscular blocking agents, 144 dysphagia, 27
188 Index
Rehabilitation process (cont.) Timed up & go (TUG), 117

gait disorders, 15 Topiramate, 98
patient-tailored neurorehabilitation, 15 Transcutaneous electrical nerve stimulation
PD, 20, 22 (TENS), 101
physical, 22 Tremor device, 172173
speechlanguage therapy, 24, 28, 29 Trihexyphenidyl, 12
telerehabilitation, 24
tongue-strengthening, 28
VR application, 22 U
Repetitive transcranial magnetic stimulation Ubiquitin-conjugated proteins, 6
(rTMS), 55 Unified Dystonia Rating Scale, 147
Resistance training (RT) program, 99 Unified Huntingtons Disease Rating Scale
Restricted Lewy bodies, 98 (UHDRS), 123
Rhythmic activities, 69 Unified Multiple System Atrophy Rating Scale
(UMSARS), 46
Unnatural movements, 1
S U-Step Laser Cane, 173
Selective gray matter lesions, 134
Sensory tricks, 150
Sialorrhea, 2829 V
Silk scarves, 68 Vascular hemichorea, 109
Single photon emission computed tomography Verbal communication disorders, 2627
(SPECT), 10 Vestibular rehabilitation exercises, 8788
Slower stepping response time (STR), 117 Vestibulo-ocular reflex (VOR), 52
SN pars compacta neurons, 7 Virtual reality (VR), 175, 176
Spasmodic dysphonia, 67, 68 training, 142
Spastic CP, 139 VPS13A gene, 107
Spastic diplegia, 132133
Spastic hemiplegia, 134135
Spastic quadriplegia, 133134 W
Speech therapy, HD, 120125 Wilsons disease, 107108
Substantia nigra (SN), 6
Sydenhams chorea (SC), 110
Synertial system, 169 X
Systemic lupus erythematosus (SLE), 110 X-linked recessive disorder, 107
Xsens system, 169
T
Telerehabilitation, 24 Y
Tetrabenazine, 116 Yawnsigh technique, 123

Movement Disorders Rehabilitation

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Movement Disorders Rehabilitation

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Movement

Hsin Fen Chien

ISBN 978-3-319-46060-4ISBN 978-3-319-46062-8(eBook)

Library of Congress Control Number: 2016959000

Springer International Publishing Switzerland 2017

Printed on acid-free paper

This Springer imprint is published by Springer Nature

To my parents Ruth and Orlando

The National Hospital, Queen Square AndrewLees

FereshteAdibSaberi, M.D. Movement Disorders Section, Department of

AlbertoJ.Espay, M.D., M.Sc. Department of Neurology, University of Cincinnati,

Movement Disorders andRehabilitation

Movement disorders (MD) represent an area of neurological dysfunction based on

H.F. Chien, M.D., Ph.D. (*)

Springer International Publishing Switzerland 2017 1

neurological conditions: transient cerebrovascular events, dementia and Parkinsons

Overview ofParkinsons Disease

Parkinsons disease is the second most common neurodegenerative disorder world-

H.F. Chien, M.D., Ph.D.

Springer International Publishing Switzerland 2017 5

The anatomopathological abnormalities of PD are characterized by neuronal loss and

The Parkinsonian syndrome encompasses neurological conditions other than PD,

Neuroimaging techniques (computed tomography and magnetic resonance imag-

 ong-Term Motor Complications ofLevodopa Treatment

Catechol-O-methyl Transferase Inhibitors

 isease-Modifying Drugs (Neuroprotection)

Physical Therapy inParkinsons Disease

Physical therapy (PT) is indicated as adjuvant treatment in PD because most of the

Specific Issues inPhysiotherapy forPD (Cues)

In 2000, Morris described the theoretical framework supporting the use of PT in

controlbefore the execution of a task, the patient should be guided to practice it

 ueing via Devices

 ual Task Training ofGait andCognition

Fig. 2.2 Auditory and

Posture, Balance andFalls

People with PD demonstrate impaired postural responses. Impairments include

(MDS)-commissioned task force [90] assessed the clinimetric properties of existing

closing movements (flexors, pronators, internal rotators, and adductors), as shown

As the disease progresses, complex motor sequences, such as transfers, may no

Fig. 2.3 Rising from the chair

Fig. 2.4 Getting out of the bed

Although there is a wide spectrum of exercise modalities, most of the studies

 he Use ofVirtual Reality asaStrategy forPhysical Therapy inPD

Table 2.1 Virtual reality in Parkinsons disease (PD)

Speech Therapy inParkinsons Disease

Organic Neurological Dysphonia

Dysphonia is analyzed by auditoryperceptual evaluation, automatic computer-

Dysarthria is seen in as many as 90% of individuals with PD [123]. These patients

Features Changes Signs Impact Treatment

It is estimated that 5060% of PD patients experience impaired language under-

Other Verbal andNonverbal Communication Disorders

Parkinsons disease also involves nonverbal language impairment. This manifesta-

Table 2.3 Other aspects of communication

Dysphagia is very common in PD.It affects up to 80% of individuals in the early

As there are no established diagnostic criteria for sialorrhea, prevalence estimates of

Table 2.4 Dysphagia, drooling and sialorrhea

Speechlanguage therapy rehabilitation may improve patients ability to retain

 ccupational Therapy Intervention inPatients

The National Hospital, Queen Square AndrewLees

Movement Disorders andRehabilitation

Overview ofParkinsons Disease

ong-Term Motor Complications ofLevodopa Treatment

Catechol-O-methyl Transferase Inhibitors

isease-Modifying Drugs (Neuroprotection)

Physical Therapy inParkinsons Disease

Specific Issues inPhysiotherapy forPD (Cues)

ueing via Devices

ual Task Training ofGait andCognition

Posture, Balance andFalls

he Use ofVirtual Reality asaStrategy forPhysical Therapy inPD

Speech Therapy inParkinsons Disease

Organic Neurological Dysphonia

Other Verbal andNonverbal Communication Disorders

ccupational Therapy Intervention inPatients

ctivities ofDaily Living andInstrumental Activities

Multiple System Atrophy

Progressive Supranuclear Palsy

hysical Therapy in Parkinsonian Syndromes

hysical Therapy in Progressive Supranuclear Palsy

hysical Therapy in Multiple System Atrophy

hysical Therapy in Corticobasal Syndrome

Speech Therapy inAPD

Multiple System Atrophy

Progressive Supranuclear Palsy

Special Features ofDystonia

Laryngeal andPharyngeal Dystonia

Use ofVirtual Reality Applications

Vestibular Rehabilitation Exercises

Adding Extra Weight toExercises

Prospects forRehabilitation ofAtaxia

Speech andVoice Therapy inAtaxia

Clinical Features ofET

Pharmacological andSurgical Therapies

Nonpharmacological Therapy andRehabilitation

ranscutaneous Electric Nerve Stimulation