Kilic-Berkmen Gamze, Wright Laura J, Perlmutter Joel S, Comella Cynthia, Hallett Mark, Teller Jan, Pirio Richardson Sarah, Peterson David A, Cruchaga Carlos, Lungu Codrin, Jinnah H A
Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States.
Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States.
Front Neurol. 2021 Apr 8;12:660909. doi: 10.3389/fneur.2021.660909. eCollection 2021.
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both. Research in dystonia has been challenged by several factors. First, dystonia is uncommon. Dystonia is not a single disorder but a family of heterogenous disorders with varied clinical manifestations and different causes. The different subtypes may be seen by providers in different clinical specialties including neurology, ophthalmology, otolaryngology, and others. These issues have made it difficult for any single center to recruit large numbers of subjects with specific types of dystonia for research studies in a timely manner. The Dystonia Coalition is a consortium of investigators that was established to address these challenges. Since 2009, the Dystonia Coalition has encouraged collaboration by engaging 56 sites across North America, Europe, Asia, and Australia. Its emphasis on collaboration has facilitated establishment of international consensus for the definition and classification of all dystonias, diagnostic criteria for specific subtypes of dystonia, standardized evaluation strategies, development of clinimetrically sound measurement tools, and large multicenter studies that document the phenotypic heterogeneity and evolution of specific types of dystonia.
肌张力障碍是一种运动障碍，其特征为持续或间歇性的肌肉收缩，导致异常姿势、重复性动作或两者兼具。肌张力障碍的研究受到多种因素的挑战。首先，肌张力障碍并不常见。肌张力障碍并非单一疾病，而是一组具有不同临床表现和病因的异质性疾病。不同的临床专科医生，包括神经科、眼科、耳鼻喉科等，可能会遇到不同亚型的肌张力障碍。这些问题使得任何单一中心都难以在短时间内招募到大量患有特定类型肌张力障碍的受试者进行研究。肌张力障碍联盟是一个由研究人员组成的联盟，旨在应对这些挑战。自2009年以来，肌张力障碍联盟通过与北美、欧洲、亚洲和澳大利亚的56个研究点合作，鼓励开展协作。其对合作的重视促进了国际上对所有肌张力障碍的定义和分类、特定亚型肌张力障碍的诊断标准、标准化评估策略、可靠的临床测量工具的开发以及记录特定类型肌张力障碍表型异质性和演变的大型多中心研究达成共识。
