Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy is a genetic disease inherited in an X-linked recessive pattern and characterized by the lack of the protein dystrophin. Boys with the genetic defect show symptoms of the disease at a young age, and symptoms progressively worsen and result in an early death. No treatment exists beyond comfort care and multidisciplinary efforts to decrease deformity, maintain function, and preserve life. Scoliosis is rapidly progressive and fusion should be pursued. Joint contractures and foot deformities are common as well, and surgery can be pursued if rehabilitative efforts fail.