Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation.

Abstract excerpt

An 18-year-old lady had presented to us with insidious onset progressive gait ataxia of 5-year duration. Her sister had similar complaints and type 1 diabetes mellitus. Examination revealed, gait ataxia, impaired tandem gait, babinski sign and severe swaying on testing for Romberg's sign. All deep tendon reflexes were exaggerated. On investigations, there was no evidence for diabetes mellitus or nutritional...

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