Comp A-Surveillance and Research of Muscular Dystrophies and Neuromuscular Disorders

描述（由申请人提供）：自2002年以来，科罗拉多州公共卫生和环境部（CDPHE）一直是多州（亚利桑那州、科罗拉多州、爱荷华州、纽约州、佐治亚州和夏威夷）与疾病控制和预防中心（CDC）合作协议的一部分，即肌肉萎缩症监测、跟踪、和研究网络（MD STARnet），该网络模拟从公共卫生角度了解遗传疾病流行病学所需的基础设施，并收集与结果和卫生服务有关的问题的数据。作为MD STARnet的一部分，我们对杜氏和贝克尔肌营养不良症（DBMD）进行了基于人群的监测和流行病学研究，并发表了几篇文章来传播这项工作的发现。这些文章涵盖了诊断年龄、标准监测病例定义的发展、类固醇的使用、患病率和死亡率等领域，并有助于美国对DBMD的科学和临床理解。该提案中的具体目标和活动（见本文件末尾）将允许MDSTARnet站点：1)继续收集MDSTARnet人群的重点数据并发布报告，以进一步了解DBMD和其他七种肌肉营养不良症的科学和临床问题，包括有关这些疾病的青少年和成人的生存、需求、生活质量和重要过渡期的信息；2)收集和传播从第一个国家获得的重要“经验教训”

DESCRIPTION (provided by applicant): Since 2002, the Colorado Department of Public Health and Environment (CDPHE) has been part of a multi-state (Arizona, Colorado, Iowa, New York, Georgia and Hawaii) cooperative agreement with the Centers for Disease Control and Prevention (CDC), the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) that models the infrastructure necessary to understand the epidemiology of genetic disorders from a public health perspective and gathers data about issues related to outcomes and health services. As part of MD STARnet, we have conducted population-based surveillance and epidemiologic research of Duchenne and Becker Muscular Dystrophy (DBMD) and published several articles to disseminate the findings of this work. These articles have covered areas such as age at diagnosis, development of a standard surveillance case definition, use of steroids, and prevalence and mortality and have contributed to the scientific and clinical understanding of DBMD in the United States. The Specific Aims and Activities (shown at the end of this document) in this proposal will allow the MD STARnet sites to: 1) continue to collect focused data and publish reports on the MDSTARnet population to further inform scientific and clinical questions about DBMD plus seven other muscular dystrophies, including information about survival, needs, quality of life, and the important transition period for adolescents and adults with these conditions; 2) collect and disseminate important 'lessons learned' from the first network in the United States to design and implement population-based surveillance and research for these conditions; 3) pilot a longitudinal model to determine the prevalence, demographics, healthcare coverage, and locations of care for Pompe disease and evaluate and report the results of this activity utilizing electronic data bases as well as newborn screening data. Using this existing model and Network is an efficient way to gain important insights about a heterogeneous and complex group of conditions.