Dr. Ciafaloni of the University of Rochester received personal compensation for serving on advisory boards and/or as a consultant for Avexis, Biogen, Pfizer, PTC Therapeutics, Sarepta, Ra pharma, Wave, and Strongbridge Biopharma; and for serving on a speaker’s bureau for Biogen. Dr Ciafaloni also received research and/or grant support from Orphazyme, PTC Therapeutics, Santhera, and Sarepta.)
Duchenne muscular dystrophy 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. Additionally, new exon-skipping treatments are showing promise in patients with certain DMD gene mutations and gene therapy preliminary results are very encouraging.
• 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 this protein for the muscle tissue.
• Survival is currently prolonged with corticosteroid use, ventilatory support, and multidisciplinary care.
Historical note and terminology
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and 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 1988a; 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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