Becker muscular dystrophy

Michele Gatheridge MD (Dr. Gatheridge of the University of Rochester Medical Center has no relevant financial relationships to disclose.)
Emma Ciafaloni MD FAAN, editor. (

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.

Originally released September 30, 1994; last updated December 7, 2020; expires December 7, 2023


Becker muscular dystrophy is a genetic neuromuscular disorder with considerable clinical heterogeneity caused by mutations in the DMD gene on the X chromosome. It is less severe compared to the allelic Duchenne form. The author outlines the clinical presentation and the advances in the diagnosis and treatment of Becker muscular dystrophy.

Key points


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


• Becker muscular dystrophy is a milder allelic variant of Duchenne muscular dystrophy.


• The diagnosis is based on clinical findings of proximal weakness, elevated creatine kinase, and confirmation with genetic testing for mutation in the DMD gene.


• Cardiomyopathy is a significant cause of morbidity and requires regular medical surveillance.

Historical note and terminology

Becker muscular dystrophy (BMD) is 1 of the most common forms of muscle disease and should be suspected in males at any age with proximal muscle weakness or enlarged muscles, and elevated serum creatine kinase. The name of the disorder comes from Emil Becker, a German physician who published the first extensive studies on this disease in the 1950s (Becker and Kiener 1955). Another muscle disease, the autosomal recessive congenital myotonia, was also named after him (Becker myotonia congenita). The inheritance of Becker muscular dystrophy is X-linked recessive; however, a large proportion of cases are sporadic.

The molecular genetic cause of Becker muscular dystrophy was elucidated in 1986 and 1987 in a series of studies that is considered an early major triumph of molecular genetics (Monaco et al 1986; Hoffman et al 1987; Hoffman et al 1988a; Koenig et al 1987). During these studies, it became clear that the more clinically severe Duchenne muscular dystrophy (DMD) is caused by the same gene and protein defect as Becker muscular dystrophy (allelic disorders).

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