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Friedreich Ataxia — SCE Neurology MCQ

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HardMovement DisordersFriedreich AtaxiaSCE Neurology

A 30-year-old man presents with progressive clumsiness, dysarthria and gait ataxia over 2 years. Examination shows cerebellar ataxia, absent ankle reflexes, pes cavus, and scoliosis. Nerve conduction studies show an axonal sensory neuropathy. Echocardiography shows left ventricular hypertrophy. What is the most likely diagnosis?

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Correct answer: C — Friedreich ataxia caused by biallelic FXN GAA-repeat expansion

The best answer is “Friedreich ataxia caused by biallelic FXN GAA-repeat expansion”. Parkinsonian syndromes are distinguished by tempo, symmetry, eye movements, falls, autonomic and cognitive features; treatment is individualised to motor and neuropsychiatric burden. The alternatives “Spinocerebellar ataxia type 3, when the phenotype supports it”, “Ataxia-telangiectasia, within the relevant UK pathway”, “Multiple-system atrophy of cerebellar type, after excluding important mimics”, “Vitamin-E-deficiency ataxia, after specialist assessment, when the phenotype supports it” 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 NG71 Parkinson disease recommendations: https://www.nice.org.uk/guidance/ng71/chapter/Recommendations