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PD – Three Advanced Therapies — SCE Neurology MCQ

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HardMovement DisordersPD – Three Advanced TherapiesSCE Neurology

A 39-year-old has severe dysarthria, dysphagia, neck flexion weakness and nocturnal hypoventilation, with relatively little ptosis or ophthalmoplegia. Repetitive stimulation shows a decrement, but acetylcholine-receptor antibodies are negative. Which test has the highest diagnostic yield next?

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Correct answer: D — Muscle-specific kinase antibody assay

Explanation lettering: C = shown as A · A = shown as B · D = shown as C · B = shown as D

A fits Lambert–Eaton syndrome, usually with proximal leg weakness, autonomic symptoms and facilitation. B is correct: MuSK myasthenia often produces disproportionate facial, bulbar, neck and respiratory weakness with relative ocular sparing, and accounts for a substantial subgroup of AChR-negative generalised myasthenia. C fits Miller Fisher syndrome. D causes CANVAS. E tests NMOSD rather than neuromuscular-junction failure.

Reference: Neuromuscular junction disorders: mimics and chameleons: https://pn.bmj.com/content/24/6/467