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

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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.