Duchenne Muscular Dystrophy

Duchenne and Becker muscular dystrophies are progressive muscle diseases primarily affecting skeletal and cardiac muscle. Duchenne muscular dystrophy usually manifests in early childhood with delayed milestones and proximal muscle weakness. The disease is rapidly progressive with most affected individuals being wheelchair bound by age 12. Few survive beyond the third decade with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy is characterized by later-onset skeletal muscle weakness, and individuals remain ambulatory into their 20s. Carrier females of these gene mutations are at increased risk for dilated cardiomyopathy and cardiac conduction defects. DNA analysis of the Duchenne/Becker muscular dystrophy gene is available as well as carrier testing and prenatal diagnosis.