Dystonia is a neurologic syndrome characterized by involuntary muscle contractions and/or abnormal postures. It can be quite painful and debilitating. Primary dystonia cases involve no known pathologic changes in the brain, and the condition, though progressive, does not appear to be degenerative. As a neurochemical disorder the path to development of a successful therapy may be relatively straightforward for any of the dystonias, much as is the case now for dopa-responsive dystonia which responds remarkably well to I-dopa replacement therapy. Early-onset dystonia has a poor prognosis; it starts in childhood, typically in a limb and spreads to involve most limbs and the trunk (generalized dystonia.) The gene for this condition was discovered several years ago by DMRF-funded investigators and mutation of this gone (DYT1) with the deletion of a single pair of GAG triplets leads to an altered gene product, torsin A. At present, the function of torsin A remains obscure but it is clearly a major basis of the pathophysiology of dystonia in carriers who do show symptoms (30% penetrance of the dominant DYT1 gene.) The planned series of workshops will include both basic and clinical topics, all germane to the dystonia field. The overarching theme will emphasize the pathophysiology with emphasis on new findings that are rapidly showing that the centers of the brain responsible to dystonia and other movement disorders may be much more malleable than previously recognized. The workshops will be planned jointly by the DMRF Scientific Advisory Board in partnership with its Directions Committee, with a goal of each year focusing on a topic that offers the greatest potential for rapid progress towards the development of new therapies. ? ? ?
