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  • Updated 01.04.2024
  • Released 03.21.1994
  • Expires For CME 01.04.2027

Duchenne muscular dystrophy



Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder that affects approximately 1 in 5000 males (81; 27). Proactive management with corticosteroids and early recognition of cardiac and respiratory pathophysiology have had a significant impact on improving the outcome of patients with Duchenne muscular dystrophy. It is an exciting time as more and more impactful genetic therapies (exon skipping and gene replacement therapy) showing potential promise in treating patients with Duchenne muscular dystrophy are seen.

Key points

• Duchenne muscular dystrophy is a multisystem progressive genetic disease that primarily causes skeletal and cardiac muscle degeneration.

• Dystrophin, a subsarcolemmal protein, is responsible for the severe pathology of muscle cells, and most therapeutic efforts are directed to provide functional dystrophin for the muscle tissue.

• Survival is prolonged with corticosteroid use, ventilatory support, and multidisciplinary care.

• Genetic treatments (exon skipping and gene replacement therapy) are now FDA approved, with continued trials in place to determine the full effect of these treatments.

Historical note and terminology

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. Studies published between 1850 and 1890 defined the course of the disorder in boys (87; 33; 39). The biochemical and genetic basis of Duchenne muscular dystrophy was elucidated in 1986 and 1987 in a series of studies that is considered a major early triumph of human molecular genetics (89; 48; 49; 64). Becker muscular dystrophy (BMD) refers to a milder phenotype that is allelic to the same gene that causes Duchenne muscular dystrophy.

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