UA-MDS-Arizona Muscular Dystrophy Surveillance and Research Program
Project Description:
Duchenne and Becker Muscular Dystrophy (DBMD) are neuromuscular disorders that occur almost exclusively in boys who have a mutation in the gene for the muscle protein, dystrophin. These conditions, sometimes referred to as dystrophinopathies, are associated with progressive muscle weakness and secondary disabilities such as loss of adaptive skills, orthopedic abnormalities, and respiratory compromise. Although a great deal is known about the natural history of DBMD, there are currently no population-based studies of detailed clinical outcomes in a large cohort of affected persons. Such studies are important for a number of reasons. (1) A population-based sample is most representative of the total population of affected individuals and tends to minimize problems such as referral bias. (2) The full range of genotypic abnormalities is present in a population-based cohort and can be correlated with the phenotypic information that is collected from multiple sources. (3) Within homogeneous genotypic subgroups, clinical outcomes can be correlated with specific treatment regimens provided at specific treatment settings. (4) Clinical interventions and their health outcomes can be measured on a population basis to help determine if DBMD or other related neuromuscular disorders are good candidates for universal newborn screening.
The Arizona Muscular Dystrophy Surveillance and Research Program (AMDSRP) is designed to address the need for population-based studies to determine the prevalence of these conditions in Arizona and to investigate health and other outcomes in children with DBMD and related disorders. The AMDSRP will be located in the Department of Pediatrics at the University of Arizona (UA) College of Medicine (COM). It is a joint effort of the Section of Medical and Molecular Genetics (MMG) and the Arizona University Center on Disabilities at the UA (AZ UCD @ UA) in collaboration with the clinicians in the Department of Neurology, COM, and Phoenix, who serve children with DBMD and with organizations that provide assistance to these individuals and their families. The project will establish a multiple source surveillance system, conduct computerized abstraction of medical and other relevant records, establish case definitions, categorize treatment settings, track clinical outcomes, collect biological samples and family interview data, and evaluate and disseminate findings of these investigations. Staff members of the AMDSRP already have extensive experience in population-based surveillance for fetal alcohol syndrome, autism spectrum disorders, and birth defects and will use this experience to develop a similar surveillance and research network for individuals with DBMD.
Keyword(s):
Muscular Dystrophy, surveillance, prevalence, genetics, health outcomes
Core Function(s):
Performing Research or Evaluation, Developing & Disseminating Information
Area of Emphasis
Quality Assurance, Education & Early Intervention, Child Care-Related Activities, Health-Related Activities, Quality of Life, Other
Target Audience:
Not Applicable
Unserved or Under-served Populations:
None
Primary Target Audience Geographic Descriptor:
State, Regional
COVID-19 Related Data:
N/A
