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  • Updated 03.30.2024
  • Released 09.30.1994
  • Expires For CME 03.30.2027

Becker muscular dystrophy



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. It is an exciting time in the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy, as we see more and more impactful genetic therapies, including gene therapy, in promising clinical trials.

Key points

• Becker muscular dystrophy is a multisystem progressive 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 is one of the most common muscle diseases 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 (05). Another muscle disease, 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 (57; 34; 35; 48). During these studies, it became clear that the more clinically severe Duchenne muscular dystrophy is caused by the same gene and protein defect as Becker muscular dystrophy (allelic disorders).

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