Dystonia as presenting manifestation of ataxia telangiectasia : a case report |
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| Authors: | Goyal V Behari M |
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| Affiliation: | Department of Neurology, All India Institute of Medical Sciences, New Delhi, 110029, India. |
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| Abstract: | Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia. |
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