International registry seeks participants with Congenital Muscle Disorders

The Congenital Muscle Disease International Registry (CMDIR), including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The registry coordinators also are interested in hearing from families in which the specific muscle disorder has not been diagnosed and can assist those who wish to pursue genetic testing. The online registry asks questions about demographics, disease effects and diagnosis that can be answered by the person with a muscle disorder or a parent. The registry also requests access to medical records, such as those containing genetic test results, biopsy results, pulmonary function tests and other relevant information. Authorisation for the registry to obtain these records expires every year and must be renewed. All information will be maintained in a secure database, and personally identifiable information will not be shared.