Case Reports
doi: 10.1016/j.parkreldis.2009.10.008.
Epub 2009 Nov 12.
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia
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- PMID: 19913450
- DOI: 10.1016/j.parkreldis.2009.10.008
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Case Reports
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia
Parkinsonism Relat Disord.
2010 May.
Abstract
We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. We suggest that in patients with this M-D phenotype, without a mutation in the DYT11 gene, SCA14 should be considered.
Copyright 2009 Elsevier Ltd. All rights reserved.
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