Becker 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 September 30, 1994; last updated June 8, 2015; expires June 8, 2018

This article includes discussion of Becker muscular dystrophy, Becker dystrophy, BMD, and dytrophinopathy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Becker muscular dystrophy is a degenerative muscle disease with considerable clinical variability caused by mutations in the dystrophin gene on the X chromosome. However, it is less severe compared to the allelic Duchenne form. The review outlines the clinical presentation, and the advances in the diagnosis of Becker muscular dystrophy. Early recognition of cardiac pathophysiology and proactive management will have an impact on improving the outcome of Becker muscular dystrophy. Various genetic strategies for treatment might be applicable for Becker muscular dystrophy, thus, improving the prospect of therapy for muscular dystrophies.

Key points

 

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

 

• The diagnosis is based on clinical findings of proximal weakness and elevated creatine kinase, and it is based on genetic testing for the Dystrophin gene.

 

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

 

• Genetic therapies can be considered for treatment in the future.

Historical note and terminology

Becker muscular dystrophy (BMD) is one 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 in 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) to a type of autosomal recessive myotonia (Becker myotonia). 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 as applied to inherited human disease (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). In general, muscular dystrophy is a pathological terminology and refers to a “degenerative” process that includes muscle fiber necrosis and fibrosis.

The content you are trying to view is available only to logged in, current MedLink Neurology subscribers.

If you are a subscriber, please log in.

If you are a former subscriber or have registered before, please log in first and then click select a Service Plan or contact Subscriber Services. Site license users, click the Site License Acces link on the Homepage at an authorized computer.

If you have never registered before, click Learn More about MedLink Neurology  or view available Service Plans.