FRIEDREICH ATAXIA – A CASE REPORT
2014 ◽
Vol 04
(02)
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pp. 133-135
Keyword(s):
Abstract:Friedreich ataxia is an autosomal recessive disorder, due to expansion of trinucleotide repeat in Frataxin gene which presents with ataxic gait, absent tendon reflexes, extensor plantar response and positive Romberg test. We present a child who came with complaints of progressive ataxia of gait since the age of 10 years and was diagnosed to have Friedreich ataxia. They have associated cardiomyopathy and endocrine abnormality like diabetes and hypothyroidism.
1999 ◽
Vol 57
(1)
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pp. 1-5
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2013 ◽
Vol 71
(6)
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pp. 345-348
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2012 ◽
Vol 27
(9)
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pp. 1133-1137
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2019 ◽
Vol 3
(2)
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pp. 84-86