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,...

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Veröffentlicht in:	Movement disorders 2009-03, Vol.24 (4), p.479-489
Hauptverfasser:	Kinugawa, Kiyoka, Vidailhet, Marie, Clot, Fabienne, Apartis, Emmanuelle, Grabli, David, Roze, Emmanuel
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences clinical neurology Diagnosis, Differential Diseases of striated muscles. Neuromuscular diseases Dystonia - complications Dystonia - diagnosis Dystonia - genetics Dystonia - therapy epsilon-sarcoglycan genetics Humans Magnetic Resonance Imaging - methods Medical sciences Movement Disorders - genetics Movement Disorders - physiopathology Movement Disorders - therapy Mutation - genetics Myoclonus - complications Myoclonus - diagnosis Myoclonus - genetics Myoclonus - therapy myoclonus-dystonia Neurology pathophysiology primary dystonia Sarcoglycans - genetics
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Zusammenfassung:	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 recommendationsfor clinical management. © 2008 Movement Disorder Society
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.22425