Congenital muscular dystrophies
The Congenital Muscular Dystrophy International Registry (CMDIR) was created by the patient advocacy group Cure CMD to identify the global Congenital Muscular Dystrophy (CMD) population for the purpose of raising awareness, improving standards of care, accelerating clinical trials and in the future finding a treatment or cure. Individuals with all forms of CMD can register in the registry.
The registry includes demographic, disease-specific and diagnostic questions. It 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 can help you find a lab to determine the genetic mutation.
Registries for COL6-related dystrophies
The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of th …