Duchenne muscular dystrophy (MD) is the most common childhood MD. Although Duchenne MD is a recessive X-linked MD affecting ~1:5000 live male births, 30% of cases are owing to new mutations. It results from defects in the dystrophin gene that affect the presence or the quantity or quality of the dystrophin protein. Without a functional dystrophin protein, muscles cannot sustain the stress of repeated contractions. With time and repeated use, the damage to the dystrophin-lacking muscles can no longer be repaired, and the muscle fibers are replaced with connective tissue and fat.
The signs and symptoms of Duchenne MD become apparent between 2 and 3 years of age when muscle weakness and ambulation difficulties are first noticed. Progressive muscle degeneration continues throughout life, resulting in a shortened lifespan.
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Cite this: Jasvinder P. Chawla. Fast Five Quiz: Duchenne Muscular Dystrophy Presentation and Diagnosis - Medscape - May 30, 2023.