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

Elisabeth M J Foncke; Richard J Beukers; Cees C Tijssen; Johannes H T M Koelman; Marina A J Tijssen

doi:10.1016/j.parkreldis.2009.10.008

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

Parkinsonism Relat Disord. 2010 May;16(4):288-9. doi: 10.1016/j.parkreldis.2009.10.008. Epub 2009 Nov 12.

Authors

Elisabeth M J Foncke¹, Richard J Beukers, Cees C Tijssen, Johannes H T M Koelman, Marina A J Tijssen

Affiliation

¹ Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands.

PMID: 19913450
DOI: 10.1016/j.parkreldis.2009.10.008

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.

Publication types

Case Reports
Twin Study

MeSH terms

Adolescent
Age of Onset
Dystonia / complications
Dystonia / genetics
Dystonia / physiopathology*
Electromyography
Humans
Male
Middle Aged
Movement Disorders / complications
Movement Disorders / genetics
Movement Disorders / physiopathology*
Myoclonus / complications
Myoclonus / genetics
Myoclonus / physiopathology*
Pedigree
Phenotype
Spinocerebellar Ataxias / complications
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / physiopathology*
Tremor / etiology
Young Adult