An X-linked recessive disorder caused by mutations in the DMD gene encoding dystrophin, essential for muscle fiber integrity. Primarily affects males (1 in 3,500-5,000 male births), causing progressive muscle degeneration and weakness.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Progressive muscle weakness. Loss of ambulation by age 12 without steroids, 16 with steroids. Respiratory and cardiac involvement in late teens. Death typically in 20s-30s from cardiac or respiratory failure. Newer therapies extending lifespan.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning