The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet): Component C Dissemination

项目摘要/摘要 九种主要类型的肌营养不良是遗传性神经肌肉疾病的异质性集合。 所有9例都以进行性肌肉退化和虚弱为特征，但随发病年龄的不同而不同。 受影响的肌肉群，涉及的基因，以及疾病进展和严重程度的速度。作为肌肉的一部分 营养不良监测、跟踪和研究网络(MD STARnet)，皮埃蒙特(中部)地区 北卡罗来纳州为在超过5.3的人口中研究符合条件的肌营养不良症提供了环境 100万人，其中包括130多名非洲裔美国人。我们和其他参与的网络站点有 展示了对这些肌营养不良症进行基于人群的监测的价值。收集到的数据 代表了丰富的知识来源，可用于改善生活和照顾与 肌肉营养不良症。我们将使用MD STARnet数据来解决MD STARnet上的高优先级问题 研究议程。北卡罗来纳州MD STARnet团队还将在由其他人领导的分析项目上进行合作 网络站点。我们将通过对肌肉营养不良症的流行病学和 Duchenne和Becker、面肩-肱骨、先天性、远端、Emery-Dreifuss和四肢带的遗传学 肌肉营养不良症。我们将寻求改善肌强直患者的护理和健康结果 营养不良、面肩肩关节、先天性、远端、Emery-Dreifuss和四肢带状肌营养不良 通过研究强直性肌强直患者的呼吸道发病率和接受基因测试 面部肩肱、先天性、远端、Emery-Dreifuss和四肢带状肌营养不良。我们将为您服务 作为其他州领导的分析项目的二级分析师，这些项目也涉及这些目标

Project Summary/Abstract The nine major types of muscular dystrophy are a heterogenous collection of genetic neuromuscular disorders. All nine are characterized by progressive muscle degeneration and weakness, but vary by age of onset, affected muscle groups, involved genes, and rate of disease progression and severity. As part of the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), the Piedmont (central) region of North Carolina has provided a setting for studying eligible muscular dystrophies in a population of over 5.3 million people, including over 1.3 African Americans. We and other participating network sites have demonstrated the value of population-based surveillance of these muscular dystrophies. The collected data represents a rich source of knowledge to be used to improve the lives and care of individuals living with muscular dystrophies. We will to use MD STARnet data to address high-priority questions on the MD STARnet research agenda. The North Carolina MD STARnet team will also collaborate on analysis projects led by other network sites. We will increase understanding of muscular dystrophy through studies of the epidemiology and the genetics of Duchenne and Becker, facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies. We will seek to improve care and health outcomes of individuals with myotonic dystrophy, facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies through studies of respiratory morbidity among myotonic patients and the uptake of genetic testing among facioscapulohumeral, congenital, distal, Emery-Dreifuss, and limb-girdle muscular dystrophies. We will serve as secondary analysts on analytic projects led by other states which also address these goals