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Charcot-Marie-Tooth disease type 1A — SCE Neurology MCQ

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HardNeurogeneticsCharcot-Marie-Tooth disease type 1ASCE Neurology

A 24-year-old woman has lifelong ankle instability and difficulty running. Examination shows pes cavus, distal wasting, absent ankle reflexes and impaired vibration sense. Nerve conduction studies show uniformly slowed motor velocities. Her mother has similar feet. What is the most likely diagnosis?

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Correct answer: E — Charcot-Marie-Tooth disease type 1A

The best answer is “Charcot-Marie-Tooth disease type 1A”. Neurological assessment localises the lesion from positive clinical features, selects the test that answers the remaining question, and escalates urgent red flags without repeating an already established investigation. The alternatives “Friedreich ataxia”, “CIDP, after excluding important mimics”, “Motor neurone disease”, “Myasthenia gravis” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.

Reference: NICE NG127 suspected neurological conditions recommendations: https://www.nice.org.uk/guidance/ng127/chapter/Recommendations-for-adults-aged-over-16