Dystonia as a presenting sign of spinocerebellar ataxia type 1. |
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Authors: | Yih-Ru Wu Guey-Jen Lee-Chen Anthony E Lang Chiung-Mei Chen Hsuan-Yuan Lin Sien-Tsong Chen |
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Affiliation: | Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, Taipei, Taiwan. |
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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. |
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Keywords: | dystonia spinocerebellar ataxia type 1 |
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