A 50 year old driver, suffering from diabetes since 5 years, who consumes alcohol 30 g/day IS complaining of progressive ataxia. Clinical examination revealed extensor plantar response and position sense deficits. Detailed evaluation showed evidence of cardiomyopathy, scoliosis, foot deformities and optic atrophy. He is probably suffering from:
Correct Answer: Friedreich's ataxia
Description: Friedreich's ataxia (autosomal recessive) Ataxia, areflexia, extensor plantar responses, position sense deficits, cardiomyopathy, diabetes mellitus, scoliosis, foot deformities; optic atrophy; late-onset form, as late as 50 years with preserved deep tendon reflexes, slower progression, reduced skeletal deformities, associated with an intermediate number of GAA repeats and missense mutations in one allele of frataxin; genetic testing available Ref: Harrisons Principles of Internal Medicine, 18th Edition
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