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Duchenne Muscular Dystrophy — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentDuchenne Muscular DystrophyRACP Paediatrics

A 2-year-old boy presents with progressive difficulty walking and frequent falls. He uses Gowers' manoeuvre to stand from the floor. Calf pseudohypertrophy is noted. Creatine kinase is 15,000 U/L (normal <200). What is the most likely diagnosis?

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Correct answer: E — Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked condition presenting in boys typically between 2–5 years with progressive proximal weakness, Gowers' manoeuvre, calf pseudohypertrophy, and markedly elevated CK (typically 10,000–50,000 U/L). Diagnosis is confirmed by dystrophin gene testing. Corticosteroids (prednisolone or deflazacort) slow disease progression.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Muscular Dystrophy