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

Anshita Arora, Shruti Bajaj, Nishant Rathod, Anaita U HegdeAnnals of Indian Academy of Neurology 2022 25(6):1167-1169 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 the course of the disease. A diagnosis of variant or atypical ataxia-telangiectasia (variant AT) is considered in case of any deviation from the normal course of illness giving rise to variable presentations of the disease. Only a few cases of variant AT with predominant movement disorder have been reported worldwide. A knowledge of atypical presentations helps in early diagnosis and thus to initiate management and counselling of the family at the earliest. Here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia.
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research