Genetic and Pediatric Diseases · USMLE Step 1

Which pediatric genetic disease is characterized by progressive destruction of motor neurons leading to muscle weakness, often inherited in an X-linked pattern?

  1. Tay–Sachs disease
  2. Duchenne muscular dystrophy
  3. Cystic fibrosis
  4. Down syndrome
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Correct answer: Duchenne muscular dystrophy

Duchenne muscular dystrophy is an X-linked recessive disorder causing loss of dystrophin, leading to progressive muscle degeneration and weakness. Males are primarily affected due to X-linked inheritance.

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