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 CMDIR registers through the limb girdle spectrum for all three disease groups. Click here for the list of Congenital Muscle Disease Subtypes followed in the CMDIR.
Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.
You do not have to be diagnosed with a specific muscle disorder to register. We welcome everyone with congenital or later onset muscle weakness to register, and can provide information on institutions who perform genetic testing, the names of medical providers who specialize in the diagnosis and treatment of muscle disease, and community support groups to put you in touch with others affected by a muscle disorder.
The registry includes demographic, disease specific and diagnostic questions. The CMDIR has online help and genetic counselors you can access if you have questions. If you do not yet have genetic confirmation of disease, CMDIR counselors may be able to assist in finding a testing lab to help you determine your genetic mutation.
Genetic counseling services will be in English only with the option of a referral to a genetic counselor or neurologist in your home country.