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The Congenital Muscular Dystrophy International Registry (CMDIR) was created to identify the global CMD population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure.
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.
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 will help you find a lab to determine the genetic mutation (if known).
CMD Subtypes included in the CMDIR:
- Ullrich CMD
- Merosin deficient (MDC1A)
- CMD, undiagnosed (including merosin positive)
- Dystroglycanopathy (WWS, MEB, Fukuyama)
- Integrin alpha 7 deficiency
- Integrin alpha 9 deficiency
- Laminopathy (Lamin A/C)
- SEPN 1 related myopathies: SEPN1 (selenoprotein deficiency)
LGMD subtypes included in CMDIR:
- Bethlem myopathy
- Dystroglycanopathies (LGMD2K, LGMD2I, LGMD2L, LGMD2N)
Congenital Myopathy: RYR1 (ryanodine receptor)
The CMDIR is available in English, Spanish, French, and German. Genetic counseling services will be in English only with the option of a referral to a genetic counselor or neurologist in the home country.
CMDIR is sponsored by
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The following countries are currently represented in the CMDIR:
CMDIR participants have the following diagnosis:
