Journal
MOVEMENT DISORDERS
Volume 24, Issue 4, Pages 479-489Publisher
WILEY
DOI: 10.1002/mds.22425
Keywords
myoclonus-dystonia; primary dystonia; clinical neurology; epsilon-sarcoglycan; genetics; pathophysiology
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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. (C) 2008 Movement Disorder Society
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