Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia

Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia

Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in t...

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Bibliographic Details
Main Authors: Anshita Arora, Shruti Bajaj, Nishant Rathod, Anaita U Hegde
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
dystonia
exome sequencing
genetic counselling
rare diseases
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1167;epage=1169;aulast=

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1167;epage=1169;aulast=

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