Department of Neurology, Emory University, Atlanta, Georgia 30322, USA.
Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567.
The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, in which the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focusing attention on less well understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders and for developing novel therapeutics.
最常见的肌张力障碍形式是那些在成年人中发展并影响身体相对孤立区域的疾病。尽管这些成人发病的局灶性肌张力障碍最为常见,但对其病因和发病机制的了解落后于一些更为罕见的全身性肌张力障碍,后者中遗传缺陷的鉴定既促进了基础研究,也促进了临床研究。本综述简要回顾了成人发病的局灶性肌张力障碍的临床表现,重点关注了一些了解较少但需要进一步研究的临床表现。它还为不同的成人发病的局灶性肌张力障碍之间的相似性和差异提供了一个简单的概念模型,这是将它们归为一类疾病的同时又将其分为亚型的理论基础。结论部分概述了未来最重要的一些研究问题。这些问题的答案对于我们加深对这组疾病的理解和开发新的治疗方法至关重要。