Duchenne muscular dystrophy

Alternative Names

Pseudohypertrophic muscular dystrophy; Muscular dystrophy – Duchenne type

Definition of Duchenne muscular dystrophy

Duchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness.

Causes, incidence, and risk factors

Duchenne muscular dystrophy is a rapidly-worsening form of muscular dystrophy. Other muscular dystrophies (including Becker’s muscular dystrophy) get worse much more slowly.

Symptoms

Symptoms usually appear before age 6 and may appear as early as infancy. They may include:

Signs and tests

A complete nervous system (neurological), heart, lung, and muscle exam may show:

Treatment

There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.

Expectations (prognosis)

Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.

Review

Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 3/9/2010

X-linked recessive genetic defects - how boys are affected
X-linked recessive genetic defects - how girls are affected
X-linked recessive genetic defects

ADAM Medical Encyclopedia

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