Duchenne muscular dystrophy

Gyula Acsadi MD PhD (Dr. Acsadi, Chief of Pediatric Neurology at the Departments of Pediatrics and Neurology at the University of Connecticut, 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 September 11, 2014; expires September 11, 2017

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.


Duchenne muscular dystrophy is a common and devastating disease affecting males. The author outlines the clinical presentation and advances in the molecular pathogenesis of Duchenne muscular dystrophy. Early recognition of cardiac and respiratory pathophysiology and proactive management will have a significant impact on improving the outcome of Duchenne muscular dystrophy, along with corticosteroid treatment. Various genetic therapy strategies including “exon skipping” are entering into clinical trials, thus, improving the prospect for therapy for muscular dystrophies.

Key points


• Duchenne muscular dystrophy is a progressive genetic disease with 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 tissueA

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 DMD.

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