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Spinal muscular atrophy type 3 — SCE Neurology MCQ

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HardNeuromuscularSpinal muscular atrophy type 3SCE Neurology

A young adult has pes cavus, distal wasting, absent ankle reflexes and slowly progressive length-dependent sensory loss. Several relatives are similarly affected. What is the best diagnostic strategy?

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Correct answer: B — Electrophysiological classification followed by targeted genetic testing and counselling

The best answer is “Electrophysiological classification followed by targeted genetic testing and counselling”. The long-standing familial motor-sensory phenotype suggests Charcot–Marie–Tooth disease; nerve-conduction pattern guides efficient genetic testing. “Diagnose CIDP and start IVIg without testing” can be reasonable in another presentation, but it does not account for the defining feature here. “Use muscle biopsy as the universal first test” can be reasonable in another presentation, but it does not account for the defining feature here. “Exclude inherited neuropathy because onset is in adulthood” can be reasonable in another presentation, but it does not account for the defining feature here. “Order aquaporin-4 antibodies to classify the neuropathy” can be reasonable in another presentation, but it does not account for the defining feature here.

Reference: Charcot-Marie-Tooth disease overview: https://www.ncbi.nlm.nih.gov/books/NBK1358/