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Case Reports
. 2010 May;16(4):288-9.
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

Elisabeth M J Foncke  1 , Richard J Beukers, Cees C Tijssen, Johannes H T M Koelman, Marina A J Tijssen
Affiliations
Case Reports

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia

Elisabeth M J Foncke et al. 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.

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