Friedreich Ataxia — RACP Paediatrics MCQ

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HardNeurology & DevelopmentFriedreich AtaxiaRACP Paediatrics

A 7-year-old has progressive gait difficulties, pes cavus, scoliosis, absent ankle reflexes. ECG shows T-wave inversions. Diagnosis?

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Correct answer: E — Friedreich ataxia

Friedreich ataxia: autosomal recessive, progressive ataxia, absent reflexes, pes cavus, scoliosis, hypertrophic cardiomyopathy.

Reference: RACP – 2024 – Paediatric Curriculum: Neurological Disorders