Amyoplasia

Amyoplasia is a condition characterized by a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints. It is the most common form of arthrogryposis.

It is characterized by quadrimelic involvement and replacement of skeletal muscle by dense fibrous tissue and fat. Studies involving amyoplasia have revealed similar findings of the muscle tissue due to various causes including that seen in sacral agenesis and diseases of the anterior horn cell. So amyoplasia may also include an intermediate common pathway, rather than the primary cause of the contractors.

Characteristic appearance

Children with amyoplasia often suffer from internally rotated shoulders, extended elbows, ulnar flexed wrists. The type of displacement of the hips and knees is more variable, and they often have club feet. Most children have symmetrical limb involvement.

About 10% of children with amyoplasia have evidence of vascular compromise including bowel atresia, abdominal wall defects, and gastroschisis.