Project Description:
The Muscular Dystrophy Center Clinical Core is a part of the University of Washington Wellstone Muscular Dystrophy Research Center. The Clinical Core evaluates, diagnoses, and characterizes patients and families with a wide variety of muscular dystrophies. The activities of the core are embedded within the Muscular Dystrophy Association clinics at the University of Washington and Children?s Hospital and Regional Medical Center in Seattle. The purpose of the Core is to provide research subjects for advancing the understanding, management and treatment of muscular dystrophies.
Patients and families are evaluated by an interdisciplinary team of clinicians at the Neurogenetics and Muscular Dystrophy Clinics at the University of Washington and Children?s Hospital and Regional Medical Center. The teams include neurologists, physiatrists, genetics counselors and physical therapists. The clinical core maintains a muscular dystrophy research subject registry that includes persons with Duchenne?s, myotonic and facioscapulohumeral dystrophies who have agreed to participate in research projects. Patients receive a diagnosis and characterization that includes a physical examination, functional assessment, EMG, muscle biopsy (when required), and DNA diagnostic testing. Family history, pedigree drawing, and genetic counseling are also provided by experienced genetic counselors.
The Core provides research subjects and tissue samples for scientific projects including blood, DNA, skin fibroblasts and muscle. Patients will be followed longitudinally and formal assessment will be made of the impact of genetic counseling on their social and emotional well being, their attitudes toward their genetic disease and on family and interpersonal relationships.
