Congenital Muscle Disease International Registry


The Congenital Muscle Disease International Registry (CMDIR) was created in 2009 to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, assisting with enrollment in clinical trials, and in the future finding treatments or cures.

Disorders We Register:

  • Congenital and Limb Girdle Muscular Dystrophy
  • Congenital Myopathy
  • Congenital Myasthenic Syndrome
  • Escobar Syndrome
  • Myofibrillar Myopathy

Please refer to for the complete list including disorders not followed in the CMDIR

Registry Location International - available to Australians
Registry Participation Voluntary
Registry Contact

General Inquiries


See our website for further contact details

Adding New Patients to Registry

Affected individuals can register. 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, on the website.


Please see the website for more information