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

E.M.J. Foncke, R.J. Beukers, C.C. Tijssen, J.H. Koelman, M.A. Tijssen

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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. (C) 2009 Elsevier Ltd. All rights reserved
Original languageEnglish
Pages (from-to)288-289
JournalParkinsonism and Related Disorders
Issue number4
Publication statusPublished - 2010

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