Article
Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.
Cerebellum (London, England) - 1 Mar 2009
Carrillo Fatima, Schneider Susanne A, Taylor A Malcolm R, Srinivasan Venkataramanan, Kapoor Raj, Bhatia Kailash P
Abstract excerpt
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of...
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