Disease Directory Duchenne Muscular Dystrophy
Neuromuscular

Duchenne Muscular Dystrophy

Also known as: DMD

Prevalence

1 in 3,500–5,000 male births

Onset

Early childhood (2–5 years)

Type

Disease

Gene

DMD

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, caused by mutations in the DMD gene encoding dystrophin. It affects primarily males, with progressive muscle wasting beginning in early childhood, loss of ambulation typically by age 12, and cardiac and respiratory involvement by the teens. Exon-skipping therapies (eteplirsen, golodirsen, viltolarsen, casimersen) are approved for specific mutation types. Gene therapy and CRISPR-based trials are actively recruiting. The DMD community is one of the most trial-active in rare disease.

Common Clinical Features

Progressive proximal muscle weakness Delayed walking or toe-walking Gowers sign (difficulty rising from floor) Calf pseudohypertrophy Cardiomyopathy Respiratory insufficiency Scoliosis Cognitive and learning difficulties

Clinical Trial Eligibility Tips

What to know before applying to Duchenne Muscular Dystrophy trials.

Mutation type (deletion, duplication, or point mutation) determines eligibility for exon-skipping drugs — get full DMD gene sequencing before reviewing trials.

The TREAT-NMD DMD Global Database is the largest DMD registry — registering increases your chances of being approached for new studies.

Steroid treatment (deflazacort or prednisone) is standard of care — confirm current steroid status when applying for trials as it affects washout requirements.

Patient Resources

Patient Organization

Parent Project Muscular Dystrophy

Visit website ↗

Natural History Registry

TREAT-NMD DMD Global Database

Join registry ↗

Orphanet

European reference resource for rare diseases

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Duchenne Muscular Dystrophy trials

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

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