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Friedreich Ataxia — SCE Neurology MCQ

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ModerateNeurogeneticsFriedreich AtaxiaSCE Neurology

A 15-year-old boy (seen in transition clinic) has progressive gait ataxia since age 8. Examination shows bilateral pes cavus, absent ankle jerks, extensor plantars, kyphoscoliosis, and reduced vibration/proprioception in the legs. ECG shows T-wave inversions consistent with hypertrophic cardiomyopathy. Genetic testing shows a GAA trinucleotide repeat expansion in the frataxin (FXN) gene. What is the diagnosis?

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Correct answer: E — Friedreich ataxia

Friedreich ataxia is the most common hereditary ataxia (autosomal recessive, GAA repeat in FXN gene). Cardinal features: progressive gait/limb ataxia, absent lower limb reflexes WITH extensor plantars (mixed UMN/LMN — the reflexes are lost due to dorsal root ganglion involvement while corticospinal tracts are affected centrally), pes cavus, kyphoscoliosis, hypertrophic cardiomyopathy (major cause of death), and diabetes mellitus. Onset is typically before age 25. A: SCA3 is autosomal dominant. C: CMT causes neuropathy without ataxia or cardiomyopathy. D: Ataxia telangiectasia has oculocutaneous telangiectasias. E: Wilson has hepatic involvement and Kayser-Fleischer rings.

Reference: ABN Ataxia Guidelines; EFNS Friedreich Ataxia Guidelines