Component A - The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) in Utah

项目摘要/摘要 肌营养不良症是一种肌肉紊乱，导致进行性肌肉无力和肌肉萎缩。 生活质量和呼吸系统和心脏并发症的死亡率。除了马达、呼吸和 心脏并发症，受影响的个人和家庭有显著的社会、心理和认知 在理解上存在重大差距的问题。作为MD STARnet项目的一部分，我们已经确定了 犹他州的所有肌肉营养不良类型，使用我们州现有的独特资源的组合。这些 资源包括我们在犹他大学的神经肌肉专科诊所和小学儿童 我们医院是西部山区唯一的肌营养不良症专科诊所。相关 犹他大学和InterMountain Healthcare的电子医疗系统提供医疗服务 为犹他州95%的大多数人口提供服务。一个独特的电子资源，犹他州的人口 数据库，将犹他州的所有个人与多个数据源联系起来，包括广泛的家谱、医院记录、 死亡证明，出生证明，门诊护理和急诊室就诊，以及犹他州癌症登记。 拟议项目的重点是利用这些资源继续我们的监测工作，并加强我们的 对符合条件的肌营养不良病例进行纵向监测，以帮助了解 影响健康和福祉的患病率、合并症，并解决认识上的差距，包括 心理和神经行为功能以及与健康相关的生活质量问题。这一信息非常重要 用于未来的疾病修改治疗试验，并用于检测和护理那些可能没有 目前有机会获得标准的护理。

PROJECT SUMMARY/ABSTRACT The muscular dystrophies are disorders of muscle leading to progressive muscle weakness and reduced quality of life and mortality due to respiratory and cardiac complications. In addition to motor, respiratory, and cardiac complications, affected individuals and families have significant social, psychological, and cognitive issues that are major gaps in understanding. As part of the MD STARnet project, we have identified cases of all muscular dystrophy types in Utah, using a combination of unique resources available in our state. These resources include our neuromuscular subspecialty clinics at the University of Utah and Primary Children’s Hospital where we are the only muscular dystrophy specialty clinics in the intermountain west. Relevant electronic health systems from the University of Utah and Intermountain Healthcare capture health care encounters for the majority 95% of the Utah population. A unique electronic resource, the Utah Population Database, links all individuals in Utah to multiple data sources, including extensive pedigrees, hospital records, death certificates, birth certificates, ambulatory care and emergency room visits, and the Utah cancer registry. The proposed project focuses on continuing our surveillance efforts using these resources and enhancing our longitudinal surveillance for eligible muscular dystrophy cases in order to contribute to the understanding of prevalence, comorbidities impacting health and well-being, and to address gaps in understanding including issues psychological and neurobehavioral function and health-related quality of life. This information is critical for future disease modifying therapeutic trials, and for the detection and care of those individuals who may not currently have access to the standard of care.