Muscular Dystrophy: Symptoms, Progression, and Multidisciplinary Management
Muscular dystrophies are genetic disorders causing progressive muscle weakness and degeneration.
Common Features
- Muscle Weakness: Often starts in proximal legs/pelvis (Duchenne) or face/shoulders (facioscapulohumeral).
- Muscle Atrophy: Wasting follows weakness.
- Gait Difficulty: Waddling, toe-walking, frequent falls; may need wheelchair.
- Contractures: Joint stiffness from fibrosis/tendon shortening.
- Respiratory Involvement: Weak inspiratory/expiratory muscles → hypoventilation, infections.
- Cardiac Involvement: Cardiomyopathy, arrhythmias (especially Duchenne, Becker, Emery-Dreifuss, myotonic).
- Other: Dysphagia, dysarthria, ptosis, ophthalmoplegia, cognitive/behavioral issues (some types).
Progression
Relentlessly progressive; rate varies by type. Duchenne: loss of ambulation by early teens; life expectancy into 30s with modern care.
Management
- Corticosteroids (deflazacort, prednisone) for Duchenne – slow decline.
- Physical/occupational therapy, bracing, surgery for contractures.
- Respiratory support (NIV, cough assist), cardiac surveillance, nutrition.
- Gene/exon-skipping therapies (eteplirsen, golodirsen, viltolarsen) for amenable Duchenne mutations.
- Multidisciplinary neuromuscular clinic care.
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