Duchenne muscular dystrophy — MRCPCH FOP MCQ

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HardNeurology and neurodevelopmentDuchenne muscular dystrophyMRCPCH FOP

A 4-year-old boy has delayed walking, frequent falls and difficulty climbing stairs. He uses his hands to push up from the floor and has enlarged calves. What is the most appropriate investigation?

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Correct answer: D — Serum creatine kinase

Gowers' manoeuvre, proximal weakness and calf pseudohypertrophy suggest Duchenne muscular dystrophy, and serum creatine kinase is the appropriate initial investigation. EEG would not assess a primary muscle disorder. Hip radiography may explain pain or limp but not progressive proximal weakness. The pearl is that delayed gross motor development in boys should prompt consideration of neuromuscular disease.

Reference: NICE CKS Muscular dystrophy; RCPCH Progress syllabus