Disease Directory Becker Muscular Dystrophy
Neuromuscular

Becker Muscular Dystrophy

Also known as: BMD, Becker MD

Prevalence

1 in 18,000 male births

Onset

Childhood to early adulthood (later than Duchenne)

Type

X-linked recessive

Gene

DMD

About Becker Muscular Dystrophy

Becker Muscular Dystrophy is an X-linked recessive disorder caused by in-frame mutations in the DMD gene, resulting in reduced but partially functional dystrophin protein. Unlike Duchenne MD, patients typically remain ambulatory past age 16 and the course is more variable, ranging from mild proximal weakness to severe cardiac and respiratory involvement. Cardiomyopathy is a leading cause of morbidity and mortality in BMD.

Common Clinical Features

Proximal limb-girdle pattern muscle weakness Calf pseudohypertrophy Dilated cardiomyopathy Exercise intolerance and myalgia Elevated serum creatine kinase (often >1000 IU/L) Respiratory insufficiency in advanced disease Cognitive or learning difficulties in a subset

Clinical Trial Eligibility Tips

What to know before applying to Becker Muscular Dystrophy trials.

Genetic testing confirming an in-frame DMD deletion or duplication is typically required; exon-level results from multiplex ligation-dependent probe amplification (MLPA) are preferred

Cardiac trials specifically target BMD due to cardiomyopathy prevalence — cardiac MRI with ejection fraction data is frequently a screening prerequisite

Ambulatory status and 6-minute walk distance (6MWD) are primary stratification variables; document these with a physiotherapist before applying

Patient Resources

Patient Organization

Parent Project Muscular Dystrophy

Visit website ↗

Natural History Registry

Duchenne Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:98896)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Becker Muscular Dystrophy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Becker Muscular Dystrophy. Updated daily.

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