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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
Vol. 50, No. 2, 2002, pp. 187-189
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Bioline Code: ni02051
Full paper language: English
Document type: Research Article
Document available free of charge
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Neurology India, Vol. 50, No. 2, 2002, pp. 187-189
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Dystonia as Presenting Manifestation of Ataxia Telangiectasia : A Case Report
V. Goyal, M. Behari
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.
Keywords
Ataxia, Telangiectasia, Dystonia, Myoclonus
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