Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2022  |  Volume : 25  |  Issue : 6  |  Page : 1167-1169

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


1 DNB Pediatrics, Fellowship in Pediatric Neurology, Clinical Associate in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India
2 MD Pediatrics, Fellowship in Clinical Genetics (MUHS), Consultant Clinical Geneticist, NH SRCC Children Hospital, Mumbai, Maharashtra, India
3 DNB Pediatrics, Clinical Fellow in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India
4 MD Pediatrics MRCPCH (Lon), Consultant Pediatric Neurologist, NH SRCC Children Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Anaita U Hegde
Department of Pediatric Neurology, NH SRCC Children Hospital, 1-1A, Keshavrao Khadye Marg, Haji Ali, Mahalakshmi, Mumbai - 400 034, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.aian_690_22

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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.


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