Dystonia Coalition- CRP 1

摘要：孤立性肌张力障碍（以前称为原发性肌张力障碍）是一组不同的罕见 以不自主的、持续的肌肉收缩为特征的疾病，可能导致扭曲和重复性的 运动、持续运动或异常姿势。这些孤立的肌张力障碍通常开始于不同的 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史 疾病大多来自回顾性综述，受限于在任何一个临床站点看到的相对较少的患者。 本项目的主要目的是扩展我们对4种孤立性肌张力障碍的前瞻性自然史研究： 眼睑痉挛（BSP）开始于上面部;颈部肌张力障碍（CD）开始于颈部;喉 开始于喉的肌张力障碍（LD）;以及开始于肢体之一的肢体肌张力障碍。这种自然 历史项目将使用已经为肌张力障碍联盟（DC）开发的基于网络的工具来收集 美国现有研究中心的人口统计学、临床和视频数据，加拿大、澳大利亚、意大利、德国、 法国和英国将限制每种孤立性肌张力障碍亚型的招募，以确保广泛的 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Web的 安全的系统，满足我们的美国和国际招聘网站的要求。虽然 本项目的主要目的是确定这些孤立的肌张力障碍的自然史，我们还提供 通过与内部和外部的调查人员共享数据，轻松访问数据， DC，正如我们所做的那样。过去的招聘工作结合了37个国际站点的努力， 收集人口统计学，临床，评级量表，视频和生物样本数据，从3000多人与隔离 肌张力障碍我们有大量的初步数据的自然历史的孤立性肌张力障碍与 最大量的数据来自于CD用户。这份“孤立肌张力障碍的自然史”的提案将 扩大和加强这些研究。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 肢体肌张力障碍;和5）促进与DC内外的研究者共享数据。这个项目 允许研究不同的孤立的肌张力障碍，并有助于这些疾病之间的比较。我们也 将继续与私人患者倡导团体合作，以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.