Movement Disorders Unit, Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney, Australia.
Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549.
The clinical evaluation of a patient with dystonia is a stepwise process, beginning with classification of the phenomenology of the movement disorder(s), then formulation of the dystonia syndrome, which, in turn, leads to a targeted etiological differential diagnosis. In recent years, there have been significant advances in our understanding of the etiological basis of dystonia, aided especially by discoveries in imaging and genetics. In this review, we provide an update on the assessment of a patient with dystonia, including the phenomenology of dystonia and highlighting how to integrate clinical, imaging, blood, and neurophysiological investigations in order to formulate a dystonia syndrome. Evolving or emerging dystonia syndromes are reviewed, and potential etiologies of these as well as established dystonia syndromes listed to guide diagnostic testing. © 2013 Movement Disorder Society.
对肌张力障碍患者的临床评估是一个逐步的过程，首先是对运动障碍（s）的现象学进行分类，然后是肌张力障碍综合征的制定，这反过来又导致了针对病因的鉴别诊断。近年来，我们对肌张力障碍的病因基础有了更深入的了解，这主要得益于影像学和遗传学的发现。在这篇综述中，我们提供了肌张力障碍患者评估的最新信息，包括肌张力障碍的现象学，并强调了如何整合临床、影像学、血液和神经生理学研究，以制定肌张力障碍综合征。我们还回顾了不断发展或新出现的肌张力障碍综合征，并列出了这些综合征以及已确立的肌张力障碍综合征的潜在病因，以指导诊断性检查。
