Friedreich's Ataxia – A Clinical Diagnosis
oleh: Md. Fekarul Islam, Devdeep Mukherjee, Ritabrata Kundu, Joydeep Das
| Format: | Article |
|---|---|
| Diterbitkan: | Krishna Vishwa Vidyapeeth (Deemed to be University), Karad 2015-01-01 |
Deskripsi
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