Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative

disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord
and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in
ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle
movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may
become totally paralyzed.

A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic"
means nourishment–"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away.
"Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the
muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.

As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle
movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs,
speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they
require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue
atrophies.

What Types of Nerves Make Your Body Work Properly?

The body has many kinds of nerves. There are those involved in the process of thinking, memory, and of detecting
sensations (such as hot/cold, sharp/dull), and others for vision, hearing, and other bodily functions. The nerves
that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle power.
Examples of voluntary movements are your making the effort to reach for the phone or step off a curb; these actions
are controlled by the muscles in the arms and legs.

The heart and the digestive system are also made of muscle but a different kind, and their movements are not under
voluntary control. When your heart beats or a meal is digested, it all happens automatically. Therefore, the heart and
digestive system are not involved in ALS. Breathing also may seem to be involuntary. Remember, though, while you
cannot stop your heart, you can hold your breath - so be aware that ALS may eventually have an impact on breathing.

Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific
understanding regarding the physiology of this disease.

While there is not a cure or treatment today that halts or reverses ALS, there is one FDA approved drug, riluzole, that
modestly slows the progression of ALS as well as several other drugs in clinical trials that hold promise.

Importantly, there are significant devices and therapies that can manage the symptoms of ALS that help people
maintain as much independence as possible and prolong survival. It is important to remember that ALS is a quite
variable disease; no two people will have the same journey or experiences. There are medically documented cases of
people in whom ALS ‘burns out,’ stops progressing or progresses at a very slow rate. No matter what your individual
course or situation may be, The ALS Association and your medical team are here to help.
Definition
By Mayo Clinic Staff

Amyotrophic lateral sclerosis (a-mi-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a nervous system

(neurological) disease that causes muscle weakness and impacts physical function.

ALS is often called Lou Gehrig's disease, after the famous baseball player who was diagnosed with it. ALS is a type
of motor neuron disease that causes nerve cells to gradually break down and die. In the United States, ALS is
sometimes called motor neuron disease.

In most cases, doctors don't know why ALS occurs. A small number of cases are inherited.

ALS often begins with muscle twitching and weakness in an arm or leg, or sometimes with slurring of speech.
Eventually, ALS can affect your ability to control the muscles needed to move, speak, eat and breathe. ALS can't be
cured and eventually leads to death.

Symptoms

Early signs and symptoms of ALS include:

 Difficulty walking, tripping or difficulty doing your normal daily activities

 Weakness in your leg, feet or ankles
 Hand weakness or clumsiness
 Slurring of speech or trouble swallowing
 Muscle cramps and twitching in your arms, shoulders and tongue
 Difficulty holding your head up or keeping a good posture

The disease frequently begins in your hands, feet or limbs, and then spreads to other parts of your body. As the disease
advances, your muscles become progressively weaker. This weakness eventually affects chewing, swallowing,
speaking and breathing.

However, ALS doesn't usually affect your bowel or bladder control, your senses, or your thinking ability. It's possible
to remain actively involved with your family and friends.

Causes

In ALS, the nerve cells that control the movement of your muscles gradually die, so your muscles progressively
weaken and begin to waste away.

ALS is inherited in 5 to 10 percent of cases. The other cases appear to occur randomly.

Researchers are studying several possible causes of ALS, including:

 Gene mutation. Various genetic mutations can lead to inherited ALS, which appears nearly identical to the
noninherited form.
 Chemical imbalance. People with ALS generally have higher than normal levels of glutamate, a chemical
messenger in the brain, around the nerve cells in their spinal fluid. Too much glutamate is known to be toxic
to some nerve cells.
 Disorganized immune response. Sometimes a person's immune system begins attacking some of his or her
body's own normal cells, which may lead to the death of nerve cells.

Protein mishandling. Mishandled proteins within the nerve cells may lead to a gradual accumulation of abnormal
forms of these proteins in the cells, eventually causing the nerve cells to die.
Risk factors

Established risk factors for ALS include:

 Heredity. Five to 10 percent of the people with ALS inherited it (familial ALS). In most people with familial
ALS, their children have a 50-50 chance of developing the disease.
 Age. ALS most commonly occurs in people between the ages of 40 and 60.
 Sex. Before the age of 65, slightly more men than women develop ALS. This sex difference disappears after
age 70.

It may be that in some people ALS, is triggered by certain environmental factors.

Also, some studies examining the entire human genome (genome-wide association studies) found numerous genetic
variations that people with familial ALS and some people with noninherited ALS had in common. These genetic
variations might make people more susceptible to ALS.

Environmental factors under study that may modify a person's individual risk of ALS include:

 Smoking. Smoking cigarettes appears to increase a person's risk of ALS to almost twice that of a nonsmoker.
The more years spent smoking, the greater the risk. However, quitting smoking can eventually lower the
increased risk.
 Lead exposure. Some evidence suggests that exposure to lead in the workplace may be associated with the
development of ALS.

Military service. Recent studies indicate that people who have served in the military are at higher risk of ALS.
Exactly what about military service may trigger the development of ALS is uncertain, but it may include exposure to
certain metals or chemicals, traumatic injuries, viral infections and intense exertion.

Complications

As the disease progresses, people with ALS experience complications, which may include:

Breathing problems

Over time, ALS paralyzes the muscles needed to breathe. Some devices to assist your breathing are worn only at night
and are similar to devices used by people with sleep apnea. For example, you may be given noninvasive positive
pressure ventilation to assist with your breathing at night.

In the latter stages of ALS, some people choose to have a tracheostomy — a surgically created hole at the front of the
neck leading to the windpipe (trachea) — to enable the full-time use of a respirator that inflates and deflates their
lungs.

The most common cause of death for people with ALS is respiratory failure. On average, death occurs within three to
five years after symptoms begin.

Speaking problems

Most people with ALS will develop trouble speaking over time. This usually starts as some mild slurring of words,
often intermittently, but progresses over time to be more severe. With time, speech becomes more difficult for others
to understand, and people with ALS often rely on other communication technologies to communicate.

Eating problems

When the muscles that control swallowing are affected, people with ALS can develop malnutrition and dehydration.
They are also at higher risk of getting food, liquids or saliva into the lungs, which can cause pneumonia. A feeding
tube can reduce these risks.

Dementia
Some people with ALS experience problems with memory and making decisions, and some are eventually diagnosed
with a form of dementia called frontotemporal dementia.

Preparing for your appointment

If you're having some of the early signs and symptoms of a neuromuscular disease such as ALS, you might first
consult your family doctor, who will listen to your description of symptoms and do an initial physical examination.
Then your doctor will probably refer you to a doctor trained in nervous system conditions (neurologist) for further
evaluation.

What you can do

Once you're under the care of a neurologist, it may still take time to establish the diagnosis.

If you've been referred to certain medical centers, your evaluation may involve an integrated team of neurologists, and
other doctors and health care professionals trained in different aspects of motor neuron disease.

Doctors will give you a comprehensive evaluation to diagnose your condition. However, this process can be stressful
and frustrating unless your medical team keeps you informed. These strategies may give you a greater sense of
control.

 Keep a symptom diary. Before you see a neurologist, start using a calendar or notebook to jot down the time
and circumstances each time you notice problems with walking, hand coordination, speech, swallowing or
involuntary muscle movements. Your observations may reveal a pattern that aids diagnosis.
 Find a neurologist and care team. Generally, an integrated care team led by your neurologist is most
appropriate for your ALS care. Your team should communicate and be familiar with your individual needs.

An integrated team may prolong survival and improve your quality of care.

What to expect from your doctor

Your family doctor will carefully review your family's medical history and your signs and symptoms. Your
neurologist and your family doctor may conduct a physical and neurological examination, which may include testing:

 Reflexes
 Muscle strength
 Muscle tone
 Senses of touch and sight
 Coordination
 Balance

Tests and diagnosis

Amyotrophic lateral sclerosis (ALS) is difficult to diagnose early because it may appear similar to several other
neurological diseases. Tests to rule out other conditions may include:

 Electromyogram (EMG). During an EMG, your doctor inserts a needle electrode through your skin into
various muscles. The test evaluates the electrical activity of your muscles when they contract and when they're
at rest.

Abnormalities in muscles seen in an electromyogram can help doctors diagnose ALS, or determine if you
have a muscle or nerve condition that may be causing your symptoms. It can also help guide your exercise
therapy.

 Nerve conduction study. This study measures your nerves' ability to send impulses to muscles in different
areas of your body. This test can determine if you have nerve damage or certain muscle diseases.
  Magnetic resonance imaging (MRI). Using radio waves and a powerful magnetic field, an MRI can produce
detailed images of your brain and spinal cord. An MRI can evaluate if you have spinal cord tumors, herniated
disks in your neck or other conditions that may be causing your symptoms.
 Blood and urine tests. Analyzing samples of your blood and urine in the laboratory may help your doctor
eliminate other possible causes of your signs and symptoms.
 Spinal tap (lumbar puncture). Sometimes a specialist may remove a sample of your spinal fluid for analysis.
In this procedure, a specialist inserts a small needle between two vertebrae in your lower back and removes a
small amount of cerebrospinal fluid for testing in the laboratory.
 Muscle biopsy. If your doctor believes you may have a muscle disease rather than ALS, you may undergo a
muscle biopsy. In this procedure, while you're under local anesthesia a small portion of your muscle is
removed and sent to a lab for analysis.

Treatments and drugs

Because there's no reversing the course of amyotrophic lateral sclerosis, treatments focus on slowing the progression
of symptoms, preventing unnecessary complications and making you more comfortable and independent.

Because ALS involves complex physical, mental and social issues, you may find it helpful to have an integrated team
of doctors trained in many areas and other health care professionals provide your care. Having an integrated team of
doctors and other health care professionals manage your ALS care may prolong your survival and improve your
quality of life.

Your team will help you select the right treatments for you. You always retain the right to choose or not choose any of
the treatments suggested.

Medications

The drug riluzole (Rilutek) is the only medication approved by the Food and Drug Administration for ALS. The drug
appears to slow the disease's progression in some people, perhaps by reducing levels of a chemical messenger in the
brain (glutamate) that's often present in higher levels in people with ALS.

Riluzole may cause side effects such as dizziness, gastrointestinal conditions and liver function changes.

Your doctor may also prescribe medications to provide relief from other symptoms, including:

 Muscle cramps and spasms

 Spasticity
 Constipation
 Fatigue
 Excessive salivation
 Excessive phlegm
 Pain
 Depression
 Sleep problems
 Uncontrolled outbursts of laughing or crying

Therapy

 Breathing care. Over time, you'll have more difficulty breathing as your muscles become weaker. Doctors
may test your breathing regularly and provide you with devices to assist your breathing at night.

In some cases, you may choose to breathe through mechanical ventilation. Doctors insert a tube in a surgically
created hole at the front of your neck leading to your windpipe (tracheostomy), and the tube is connected to a
respirator.

 Physical therapy. A physical therapist can address pain, walking, mobility, bracing and equipment needs that
help maintain your independence. Some measures include low-impact exercises to maintain your
cardiovascular fitness, muscle strength and range of motion for as long as possible.
 A physical therapist can also help you become accustomed to a brace, walker or wheelchair and may be able
to suggest devices such as ramps that make it easier for you to get around.

Regular exercise can also help improve your sense of well-being. Appropriate stretching can help prevent pain
and help your muscles function at their best.

 Occupational therapy. An occupational therapist can help you compensate for hand and arm weakness in a
manner that helps you to keep your independence for as long as possible. Adaptive equipment can help you to
continue to perform daily activities such as dressing, grooming, eating and bathing.

An occupational therapist can also help you understand how to modify your home to allow accessibility if you
become less able to walk safely.

Occupational therapists also have a good understanding of how assistive technology and computers can be
used, even if your hands are weak.

 Speech therapy. Because ALS affects the muscles you use to speak, communication becomes an issue as the
disease progresses. A speech therapist can teach you adaptive techniques to make your speech more clearly
understood. Speech therapists can also help you explore other methods of communication, such as an alphabet
board or simple pen and paper.

Later in disease progression, a speech therapist can recommend devices such as tablet computers with text-to-
speech applications or computer-based equipment with synthesized speech that may help you communicate.
Ask your therapist about the possibility of borrowing or renting these devices.

 Nutritional support. Your team will work with you and your family members to ensure you're eating foods
that are easier to swallow and meet your nutritional needs. You may eventually need a feeding tube.
 Psychological and social support. Your team may include a social worker to help with financial issues,
insurance, and getting equipment and paying for devices you may need. Psychologists, social workers and
others may provide emotional support for you and your family.

Coping and support

Learning you have ALS can be devastating. The following tips may help you and your family cope:

 Take time to grieve. The news that you have a fatal condition that will reduce your mobility and
independence can be difficult to absorb. If you are newly diagnosed, you and your family will likely
experience a period of mourning and grief.
 Be hopeful. Your team will help you focus on your ability and healthy living. Some people with amyotrophic
lateral sclerosis live much longer than the three to five years usually associated with this condition. Some live
10 years or more. Maintaining an optimistic outlook can help improve quality of life for people with ALS.
 Think beyond the physical changes. Many people with amyotrophic lateral sclerosis lead rich, rewarding
lives despite physical limitations. Try to think of ALS as only one part of your life, not your entire identity.
 Join a support group. You may find comfort in sharing your concerns in a support group with others who
have ALS. Your family members and friends helping with your care also may benefit from a support group of
others who care for people with amyotrophic lateral sclerosis. Find support groups in your area by talking to
your doctor or by contacting the ALS Association.
 Make decisions now about your future medical care. Planning for the future allows you to be in control of
decisions about your life and your care.