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Duchenne muscular dystrophy — RACP Paediatrics MCQ

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ModerateNeurology and neurodevelopmentDuchenne muscular dystrophyRACP Paediatrics

A 4-year-old boy has delayed running, frequent falls and difficulty rising from the floor. His calves appear enlarged and he uses his hands to climb up his thighs. There is no sensory loss. What is the most likely diagnosis?

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Correct answer: BDuchenne muscular dystrophy

Gowers manoeuvre, calf pseudohypertrophy and proximal weakness in a preschool boy strongly suggest Duchenne muscular dystrophy. Guillain-Barre syndrome is usually acute with areflexia rather than a chronic motor delay pattern. Serum creatine kinase is an appropriate initial investigation before genetic confirmation.

Reference: RACP Knowledge Guides; Australian neuromuscular guidance