Family Registry

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The Congenital Muscle Disease International Registry (CMDIR) 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. This registry includes congenital myopathy (all subtypes) and congenital muscular dystrophy (all subtypes) and registers through the limb girdle spectrum for both disease groups.

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).

To learn more about the CMDIR, visit

For questions,

You can help us spread congenital muscle disease awareness, one patient at a time through referral to CMDIR.

Anne Rutkowski MD
Cure CMD

Alison Frase
Joshua Frase Foundation

Marc Guillet
Foundation Building Strength

Sarah Foye
Joshua Frase Foundation

What is the CMDIR:

How to Start a Registration:

How Do I Answer the Questions on the CMDIR:

  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

  • Register Now!