Dystonia Coalition- CRP 1

摘要：孤立性口齿困难(以前称为原发性口齿困难)是一种罕见的多种多样的疾病。 一种疾病，其特征是不自主的、持续的肌肉收缩，可能导致扭曲和反复 运动、持续运动或不正常的姿势。这些孤立的牙痛障碍通常始于不同的 身体部位，包括面部、颈部、喉部或四肢，但传播的风险和这些部位的自然病史 疾病大多来自于回顾性回顾，限制了在任何一个临床地点看到的相对较少的患者。 这个项目的主要目的是扩展我们对4个孤立的牙列难治症的预期自然历史研究： 始于上面部的眼睑痉挛(BSP)；始于颈部的颈肌张力障碍(CD)；喉 始于喉部的肌张力障碍(LD)；以及始于其中一条肢体的四肢肌张力障碍。这是最自然的 历史项目将使用已经为Dystonia Coalition(DC)开发的基于网络的工具来收集 来自美国、加拿大、澳大利亚、意大利、德国的现有网站的人口统计、临床和视频数据， 法国和英国招募每一种亚型孤立性肌张力障碍的人数将有上限，以确保广泛 所有亚型的分布足以解决我们的主要问题。我们将通过基于网络的 符合我们美国和国际招聘网站要求的安全系统。尽管 这个项目的主要目的是确定这些孤立的牙列难治症的自然历史，我们还提供 轻松访问数据，通过与内部和外部调查人员共享数据来促进协作 DC，正如我们已经成功做到的那样。过去的招聘结合了37个国际站点的努力，以 收集3000多名孤独症患者的人口统计、临床、评定量表、视频和生物样本数据 声门困难。我们有大量关于孤立的牙列难治症自然历史的初步数据 来自CD用户的最大数据量。这项关于“孤立的肌张力障碍的自然史”的提议将 扩展和加强这些研究。我们提出了5个具体目标：1)确定BSP的自然历史；2) 确定Cd的自然历史；3)确定LD的自然历史；4)确定Ld的自然历史 肢体肌张力障碍；以及5)促进与DC内外的调查人员共享数据。这个项目 允许对不同的孤立的口音障碍进行研究，并便于跨这些障碍的比较。我们也 将继续与私人患者倡导团体合作，支持在合作地点收集数据。

ABSTRACT: The isolated dystonias (previously known as primary dystonias) are a diverse group of rare disorders characterized by involuntary, sustained muscle contractions that may cause twisting and repetitive movements, sustained movements or abnormal postures. These isolated dystonias typically begin in different body parts including the face, neck, larynx or limbs but the risk of spread and the natural history of these disorders mostly come from retrospective reviews limited by relatively few patients seen at any one clinical site. The primary purpose of this project is to extend our prospective natural history studies of 4 isolated dystonias: blepharospasm (BSP) that begins in the upper face; cervical dystonia (CD) that begins in the neck; laryngeal dystonia (LD) that begins in the larynx; and limb dystonia that begins in the one of the limbs. This Natural History project will use web-based tools already developed for the Dystonia Coalition (DC) to collect demographic, clinical, and video data from existing sites in the U.S.A., Canada, Australia, Italy, Germany, France and the U.K. Recruitment for each subtype of isolated dystonia will be capped to ensure broad distribution of all subtypes adequate to address our primary questions. We will collect data via a web-based secured system that has met the requirements of our U.S. and international recruiting sites. Although the primary purpose of this project is to determine the natural history of these isolated dystonias, we also provide easy access to data to facilitate collaborations through data sharing with investigators within and external to the DC, as we have successfully done. Past recruitment combined the efforts of 37 international sites to collect demographic, clinical, rating scale, video and biosample data from more than 3000 people with isolated dystonias. We have substantial preliminary data on the natural history of the isolated dystonias with the greatest amount of data from people with CD. This proposal for “Natural History of the Isolated Dystonias” will extend and enhance these studies. We propose 5 specific aims: 1) determine the natural history of BSP; 2) determine the natural history of CD; 3) determine the natural history of LD; 4) determine the natural history of limb dystonia; and 5) facilitate sharing of data with investigators within and external to the DC. This project permits studies of the different isolated dystonias and facilitates comparisons across these disorders. We also will continue to partner with private patient advocacy groups to support data collection at collaborating sites.