Dystonia Coalition

描述（由申请人提供）：肌张力障碍联盟的总体目标是制定一项计划，以促进合作，推动肌张力障碍临床研究的步伐，肌张力障碍是一组以不自主扭转运动和不自然姿势为特征的神经系统疾病。肌张力障碍联盟包括北美和欧洲不同中心的多名研究人员，与几个非专业患者支持组织和研究基金会合作开展三个主要临床项目，一个试点项目计划，一个发展（培训）计划和一个互联网门户网站。主要临床项目1解决了影响特定身体部位的最常见形式的原发性肌张力障碍的自然史，并且总共包括约80%的所有肌张力障碍：颈部肌张力障碍（斜颈）、喉部肌张力障碍（痉挛性肌张力障碍）、颈部肌张力障碍（痉挛性肌张力障碍）、颈部肌张力障碍（痉挛性肌张力障碍）、颈部肌张力障碍（痉挛性肌张力障碍）和颈部肌张力障碍（痉挛性肌张力障碍）。 发声障碍）、眼睑痉挛（眼周区域）、颅面肌张力障碍（上面部和下面部）和肢体 肌张力障碍（手/臂或脚/腿）。纵向临床数据将与DMA和血清的生物标本库相关联，以描述疾病状态的潜在生物标志物。主要临床项目2侧重于开发综合评级工具，可用于监测疾病进展和对颈部肌张力障碍（最常见的局灶性肌张力障碍）治疗的反应。项目2中使用的方法将作为开发其他不太常见的局灶性肌张力障碍的类似工具的指南。临床项目3的重点是开发实用的临床工具，可用于痉挛性发声障碍的明确诊断和几个相关的语音障碍的歧视。它也将作为一个指导其他局灶性肌张力障碍，其中明确的诊断工具仍然缺乏，如眼睑痉挛或肢体肌张力障碍。肌张力障碍联盟将提供一个新的和有价值的基础设施和环境，将用于加速临床研究，以寻求改善所有原发性局灶性肌张力障碍的治疗。

DESCRIPTION (provided by applicant): The overall goal of the Dystonia Coalition is to develop a program to facilitate collaborations that will advance the pace of clinical research for the dystonias, a group of neurological disorders characterized by involuntary twisting movements and unnatural posturing. The Dystonia Coalition encompasses multiple investigators at different centers in North America and Europe, working together with several lay patient support organizations and research foundations on three Main Clinical Projects, a Pilot Projects Program, a Development (Training) Program, and an internet portal. Main Clinical Project 1 addresses the natural history of the most common forms of primary dystonia that affect specific body parts and collectively comprise approximately 80% of all dystonias: cervical dystonia (torticollis), laryngeal dystonia (spasmodic dysphonia), blepharospasm (peri-ocular regions), craniofacial dystonia (upper and lower face), and limb dystonias (hand/arm or foot/leg). Longitudinal clinical data will be linked with a biospecimen repository for DMA and serum to delineate potential biomarkers of disease status. Main Clinical Project 2 focuses on the development of comprehensive rating tools that can be used to monitor disease progression and responses to treatments for cervical dystonia, the most common of the focal dystonias. The methods used in Project 2 will serve as a guide for the development of similar tools for the other less common focal dystonias. Clinical Project 3 focuses on the development of practical clinical tools that can be used for definitive diagnosis of spasmodic dysphonia and discrimination from several related voice disorders. It too will serve as a guide for other focal dystonias where definitive diagnostic tools still are lacking, such as blepharospasm or limb dystonias. The Dystonia Coalition will provide a novel and valuable infrastructure and environment that will be used to accelerate clinical research in pursuit of improved treatment for all of the primary focal dystonias.