Friedreich's Ataxia – A Clinical Diagnosis
Journal Title: Journal of Krishna Institute of Medical Sciences University - Year 2015, Vol 4, Issue 1
Abstract
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene. The hallmark of this disorder is ataxic gait, areflexia, Babinski's sign and positive Romberg test. We report a 9 year old child who presented with all these features and was diagnosed with FA on the basis of these clinical features. There are few case reports of FA where the diagnosis was made so early.
Authors and Affiliations
Md. Fekarul Islam , Devdeep Mukherjee , Ritabrata Kundu , Joydeep Das
Keywords
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