Dystonia as presenting manifestation of ataxia telangiectasia : a case report.
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2002-06-23
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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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Goyal V, Behari M. Dystonia as presenting manifestation of ataxia telangiectasia : a case report. Neurology India. 2002 Jun; 50(2): 187-9