title: Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.
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.
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: Elisabeth M J
authors.initials: EM
authors.lastname: Foncke
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Beukers
authors.forename: Cees C
authors.initials: CC
authors.lastname: Tijssen
authors.forename: Johannes H T M
authors.initials: JH
authors.lastname: Koelman
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D004421:Dystonia / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D004576:Electromyography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D009207:Myoclonus / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D014202:Tremor / Q000209:etiology; D055815:Young Adult