Friedreich's Ataxia – A Clinical Diagnosis

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 wh...

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Bibliographic Details
Published in:Journal of Krishna Institute of Medical Sciences University
Main Authors: Md. Fekarul Islam, Devdeep Mukherjee, Ritabrata Kundu, Joydeep Das
Format: Article
Language:English
Published: Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 2015-01-01
Subjects:
Friedreich's ataxia (FA)
Frataxin
trinucleotide repeat
Online Access:http://jkimsu.com/jkimsu-vol4no1/JKIMSU,%20Vol.%204,%20No.%201,%20Jan-Mar%202015%20Page%20139-141.pdf
Description
Summary: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
ISSN:2231-4261
2231-4261

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