Myoclonus-dystonia: an update.
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.
Kinugawa
Kiyoka
K
INSERM U679, Pitié-Salpêtrière Hospital, Paris, France.
Vidailhet
Marie
M
Clot
Fabienne
F
Apartis
Emmanuelle
E
Grabli
David
D
Roze
Emmanuel
E
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
C526572:SGCE protein, human; D049031:Sarcoglycans