The 20 Best Spinal Muscular Atrophy with Arthrogryposis Doctors Near Me in Philadelphia, PA

Spinal muscular atrophy (SMA) with arthrogryposis (congenital joint contracture) is a genetic disorder caused by a progressive loss of motor neurons that is characterized by wasting and severe muscle weakness in the muscles used for movement combined with contractures of the joints. Contractures occur when there is a shortening and hardening of the muscles, tendons, and other tissue that leads to deformity and rigidity of the joints. While there a many types of spinal muscular dystrophy, X-linked infantile spinal muscular atrophy is a form that is combined with congenital joint contractures (arthrogryposis) and only affects boys.