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Facioscapulohumeral muscular dystrophy — SCE Neurology MCQ

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EasyNeuromuscularFacioscapulohumeral muscular dystrophySCE Neurology

A 31-year-old man presented with slow facial weakness and scapular winging from early adulthood. On examination, there was asymmetric shoulder weakness and Beevor sign. Initial investigations showed: genetic testing showed D4Z4 contraction on chromosome 4q35. Where is the most likely anatomical localisation?

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Correct answer: A — facial and scapulohumeral muscles

facial and scapulohumeral muscles is the best answer because the vignette describes Facioscapulohumeral muscular dystrophy: facial-scapular pattern with D4Z4 contraction indicates FSHD. Dominant temporal lobe is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Contralateral internal capsule and Neuromuscular junction are less appropriate because they would require different localisation, timing or test findings; Superior sagittal sinus would fit a different syndrome. Clinical pearl: myasthenia fluctuates and lacks fixed scapular winging.

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