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Case Report

Friedreich Ataxia

Liza Bulsara* , Liza Bulsara* , Sunil Mhaske**

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Journal of Orthopedic Education 2(1):p 25-27, January - June 2016. | DOI: DOI: http://dx.doi.org/10.21088/joe.2454.7956.2116.6

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Abstract

Friedreich gene Romberg test. which ataxia presents We is an present a child who came with complaints of progressive autosomal with ataxic gait, absent tendon reflexes, extensor plantar response and positive recessive disorder, due to expansion of trinucleotide ataxia ofrepeat gait since in Frataxin the age of 10 years and was diagnosed to have Friedreich ataxia. They have associated cardiomyopathy and endocrine abnormality like diabetes and hypothyroidism. 

Keywords: Areflexia; Friedreich Ataxia; Extensor Plantar Response; Romberg’s Sign; Trinucleotide Repeat.

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DOI: DOI: http://dx.doi.org/10.21088/joe.2454.7956.2116.6

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