Duchenne muscular dystrophy — SCE Neurology MCQ

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EasyNeuromuscularDuchenne muscular dystrophySCE Neurology

A 7-year-old boy presented with boy with delayed walking, calf pseudohypertrophy and Gower manoeuvre. On examination, there was proximal weakness and lumbar lordosis. Initial investigations showed: CK was very high and dystrophin gene testing showed out-of-frame deletion. What is the most likely diagnosis?

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Correct answer: E — Duchenne muscular dystrophy

Duchenne muscular dystrophy is the best answer because the vignette describes Duchenne muscular dystrophy: classic early proximal weakness with absent dystrophin indicates Duchenne muscular dystrophy. Guillain-Barré syndrome is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. CIDP and Inclusion body myositis are less appropriate because they would require different localisation, timing or test findings; Critical illness neuropathy would fit a different syndrome. Clinical pearl: Becker is usually later and milder with in-frame mutation.

Reference: NICE NG42; ABN myasthenia gravis guidance; EAN/PNS GBS-CIDP guidance