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New Perspectives on Dystonia

Published online by Cambridge University Press:  02 December 2014

Mélanie Langlois ,
Francois Richer  and
Sylvain Chouinard
Mélanie Langlois
Affiliation:
Unité des Troubles du Mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada
Francois Richer
Affiliation:
Unité des Troubles du Mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada
Sylvain Chouinard
Affiliation:
Unité des Troubles du Mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada
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Abstract

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Dystonia is a syndrome of sustained muscular contractions with numerous underlying etiologies. This review examines the varied phenomenology of dystonias, its evolving classification including recent genetic data as well as its clinical investigation and treatment. Although age of onset, anatomical distribution and family history are key elements of the investigation of dystonia, classification increasingly relies on etiologic and genetic criteria. Physiological abnormalities in striatocortical circuits are common in dystonia but the pathophysiology is still unclear. In recent years, a great deal has been learned on the more common primary dystonias such as primary torsion dystonia and on dystonia-plus syndromes such as dopamine responsive dystonia. Treatment of dystonia has also evolved and there are now a number of therapeutic agents with clear beneficial effects including anticholinergics, benzodiazepines, and botulinum toxin and there is growing interest in neurofunctional surgery including deep brain stimulation.

Résumé

RÉSUMÉ

La dystonie est un syndrome comportant des contractions musculaires soutenues et ayant une éologie varié Cette revue examine le spectre phémélogique des dystonies, les changements dans la classification compte tenu des donné gétiques réntes, ainsi que l’investigation clinique et le traitement. Bien que l’â de dét, la distribution anatomique et l’histoire familiale soient des éments cléde l’investigation de la dystonie, on tient compte de plus en plus de critès éologiques et gétiques dans la classification des dystones. Des anomalies physiologiques des circuits striato-corticaux sont fréentes dans la dystonie. Cependant, la physiopathologie demeure obscure. Au cours des derniès anné, on a acquis beaucoup de connaissances sur les dystonies primaires plus courantes telles la dystonie idiopathique de torsion et les syndromes "dystonie plus" comme la dystonie sensible àa dopa. Le traitement de la dystonie a élement éluét il existe maintenant un certain nombre d’agents thépeutiques ayant des effets béfiques incontestables comme les anticholinergiques, les benzodiazénes et la toxine botulique et on observe un intét croissant pour la chirurgie neurofonctionnelle, dont la stimulation profonde du cerveau.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 30 , supplement S1: A Peer-Reviewed Supplement to the Canadian Journal of Neurological Sciences , February 2003 , pp. S34 - S44
Copyright
Copyright © The Canadian Journal of Neurological 2003

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