Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene, leading to absence of dystrophin and progressive muscle degeneration. Clinical features include proximal muscle weakness, delayed motor milestones, pseudohypertrophy of calves, and cardiomyopathy. Diagnosis involves genetic testing, elevated serum creatine kinase, electromyography, and muscle biopsy. Management is multidisciplinary, including corticosteroids, cardiac and respiratory support, and physical therapy. Prognosis is poor, with progressive disability and reduced life expectancy, though advances in care have improved survival into adulthood.