Duchenne muscular dystrophy carrier risk — MRCPCH TAS MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGeneticsDuchenne muscular dystrophy carrier riskMRCPCH TAS

A 4-year-old boy has delayed motor milestones, calf pseudohypertrophy and a creatine kinase of 18,000 IU/L. His maternal uncle used a wheelchair from adolescence. What is the most likely inheritance pattern?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — X-linked recessive

Duchenne muscular dystrophy is typically X-linked recessive, explaining affected males through the maternal line. Autosomal recessive disease would be more likely with affected siblings of either sex or consanguinity. The teaching point is that female relatives may be carriers and may require cardiac surveillance.

Reference: Nelson Textbook of Pediatrics; RCPCH Theory examination syllabi; Lissauer's Illustrated Textbook of Paediatrics