Duchenne Muscular Dystrophy — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentDuchenne Muscular DystrophyRACP Paediatrics

A 6-year-old presents with progressive proximal muscle weakness, calf pseudohypertrophy, and Gowers sign. Creatine kinase is 15000 U/L. What is the most likely diagnosis?

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Correct answer: B — Duchenne muscular dystrophy

Duchenne muscular dystrophy: X-linked, progressive proximal weakness, calf pseudohypertrophy, markedly elevated CK (>10x normal). Gowers sign (climbing up legs) from pelvic girdle weakness. Confirmed by dystrophin gene (DMD) testing.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Neuromuscular Disorders