Friedreich's Ataxia - A Clinical Diagnosis

被引：0

作者：

Islam, Md. Fekarul ^{[1
]}

Mukherjee, Devdeep ^{[1
]}

Kundu, Ritabrata ^{[1
]}

Das, Joydeep ^{[1
]}

机构：

[1] Inst Child Hlth, Dept Pediat Med, Kolkata 700017, W Bengal, India

来源：

JOURNAL OF KRISHNA INSTITUTE OF MEDICAL SCIENCES UNIVERSITY | 2015年 / 4卷 / 01期

关键词：

Friedreich's ataxia (FA); Frataxin; trinucleotide repeat;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：139 / 141

页数：3

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