Bressman S B
Beth Israel Medical Center-Phillips Ambulatory Care Center, Department of Neurology, New York, NY 10003, USA.
Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):849-56.
Despite clinical and genetic complexity of dystonia, knowledge of primary torsion dystonia and dystonia-plus syndromes was recently expanded. Part of the category of primary dystonia includes genetic forms (DYT1, DYT6, DYT13). The DYTI mutation, with predominant limbs (95p. 100) and neck and trunk (25-35p. 100) involvement accounts for about 80p. 100 of the early onset cases in the Ashkenazi population and of 16-53p. 100 in the non- Ashkenazi population. The dystonia-plus group is defined by the association of parkinsonism (dopa-responsive-dystonia and rapid-onset dystonia-parkinsonism) or myoclonus (myoclonus-dystonia). Dopa-responsive-dystonia is a heterogeneous group with several causes (GCH1 mutations, compound mutations in GCH1, mutations in TH gene, or in 6-PTS gene). Differential diagnosis could be juvenile parkinsonism (parkin mutations). Epsilon-sarcoglycan mutation accounts for a sub-group of myoclonus-dystonia, but other genes are still unidentified. The vast majority of dystonia are sporadic and still unexplained. Functional imaging may bring new insights in disease mechanisms. Because of phenotypic overlaps, within dystonia, new classifications based on functional markers may emerge.
尽管肌张力障碍存在临床和遗传复杂性，但近期对于原发性扭转性肌张力障碍和肌张力障碍叠加综合征的认识有所扩展。原发性肌张力障碍类别包括遗传形式（DYT1、DYT6、DYT13）。DYT1突变主要累及肢体（95%）以及颈部和躯干（25% - 35%），在阿什肯纳兹人群中约占早发型病例的80%，在非阿什肯纳兹人群中占16% - 53%。肌张力障碍叠加组的定义是伴有帕金森综合征（多巴反应性肌张力障碍和快速起病的肌张力障碍 - 帕金森综合征）或肌阵挛（肌阵挛性肌张力障碍）。多巴反应性肌张力障碍是一个病因多样的异质性群体（GCH1突变、GCH1复合突变、TH基因或6 - PTS基因突变）。鉴别诊断可能包括青少年帕金森综合征（parkin突变）。ε - 肌聚糖突变可解释肌阵挛性肌张力障碍的一个亚组，但其他基因仍未明确。绝大多数肌张力障碍是散发性的，病因仍不明。功能成像可能为疾病机制带来新的见解。由于表型重叠，在肌张力障碍范围内，基于功能标志物的新分类可能会出现。
