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Duchenne muscular dystrophy — DCH MCQ

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HardDevelopmentDuchenne muscular dystrophyDCH

A 5-year-old boy is brought because he struggles to climb stairs and gets up from the floor by pushing on his thighs. His calves look bulky and his preschool noted delayed running. What is the most appropriate investigation?

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Correct answer: D — Serum creatine kinase

Gowers' manoeuvre, calf pseudohypertrophy and delayed gross motor skills suggest Duchenne muscular dystrophy, and creatine kinase is the key initial test. Hip X-ray may be relevant for limp but would not explain proximal weakness and calf enlargement. The clinical pearl is that apparent clumsiness may be proximal muscle weakness.

Reference: NICE CKS Developmental rheumatology; RCPCH