Duchenne muscular dystrophy

Michele Gatheridge MD (Dr. Gatheridge of the University of Rochester Medical Center has no relevant financial relationships to disclose.)
Salvatore DiMauro MD, editor. (Dr. DiMauro, Director Emeritus of H Houston Merritt Clinical Center for the Study of Muscular Dystrophy and Related Diseases at Columbia University, has no relevant financial relationships to disclose.)
Originally released March 21, 1994; last updated July 3, 2017; expires July 3, 2020

This article includes discussion of Duchenne muscular dystrophy, DMD, Duchenne's muscular dystrophy, Duchennes muscular dystrophy, Duchenne's dystrophinopathy, Duchennes dystrophinopathy, Duchenne dystrophy, and pseudohypertrophic muscular dystrophy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder that affects 1 in 5000 males. The author outlines the clinical presentation and advances in the molecular pathogenesis and treatment of Duchenne muscular dystrophy. Proactive management with corticosteroids and early recognition of cardiac and respiratory pathophysiology has had a significant impact on improving the outcome of patients with Duchenne muscular dystrophy. Eteplirsen, a drug that promotes truncated dystrophin production by restoring the translational reading frame through skipping of exon 51, has shown promise in phase 3 clinical trials for patients with this deletion and was approved by the FDA for accelerated approval, paving the way for new treatment options for patients with Duchenne muscular dystrophy.

Key points

 

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

 

• The survival of patients with this disease has increased dramatically due to improvements in supportive care.

 

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

Historical note and terminology

Duchenne muscular dystrophy (DMD) is one of the most common lethal genetic diseases. Studies published between 1850 and 1890 defined the course of the disorder in boys (Meryon 1852; Duchenne 1868; Gowers 1886). 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 (Monaco et al 1986; Hoffman et al 1987; Hoffman et al 1988; Koenig et al 1987). 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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