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Dystonia as a presenting sign of spinocerebellar ataxia type 1.
Authors:Yih-Ru Wu  Guey-Jen Lee-Chen  Anthony E Lang  Chiung-Mei Chen  Hsuan-Yuan Lin  Sien-Tsong Chen
Affiliation:Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, Taipei, Taiwan.
Abstract:We report on a 39-year-old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia.
Keywords:dystonia  spinocerebellar ataxia type 1
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