Dystrophinopathy: Understanding Genetic Muscle Disorders

Dystrophinopathies are X-linked recessive disorders from DMD gene mutations, causing deficient/defective dystrophin—a protein linking muscle cytoskeleton to extracellular matrix.

Spectrum

• Duchenne muscular dystrophy (DMD): No functional dystrophin; onset 2–5 years; wheelchair by teens; cardiac/respiratory involvement
• Becker muscular dystrophy (BMD): Partial dystrophin; later onset, slower progression
• Intermediate forms

Management

• Corticosteroids (deflazacort, prednisone) slow progression
• Physical/occupational therapy
• Cardiac surveillance (ACE inhibitors, beta-blockers)
• Respiratory support (NIV, cough assist)
• Exon-skipping therapies (eteplirsen, golodirsen) for amenable mutations
• Gene therapy (delandistrogene moxeparvovec) approved for DMD

Prognosis

DMD: survival into 30s with modern care. BMD: near-normal lifespan. Multidisciplinary care optimizes quality of life.