title: Myoclonus-dystonia: an update.
abstract: Our knowledge of the clinical, neurophysiological, and genetic aspects of myoclonus-dystonia (M-D) has improved markedly in the recent years. Basic research has provided new insights into the complex dysfunctions involved in the pathogenesis of M-D. On the basis of a comprehensive literature search, this review summarizes current knowledge on M-D, with a focus on recent findings. We also propose modified diagnostic criteria and recommendations for clinical management.
authors.affiliation: INSERM U679, Pitié-Salpêtrière Hospital, Paris, France.
authors.forename: Kiyoka
authors.initials: K
authors.lastname: Kinugawa
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Fabienne
authors.initials: F
authors.lastname: Clot
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Apartis
authors.forename: David
authors.initials: D
authors.lastname: Grabli
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
mesh_terms: D003937:Diagnosis, Differential; D004421:Dystonia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009069:Movement Disorders / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D049031:Sarcoglycans / Q000235:genetics
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans