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The Congenital Muscle Disease International Registry (CMDIR), including congenital muscular dystrophy, congenital myopathy and extending to limb girdle spectrum, 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).  

Congenital muscular dystrophy  subtypes included in the CMDIR:

• Ullrich CMD (early onset) and Intermediate Collagen VI myopathy
• Laminin Alpha 2 deficient CMD (MDC1A/Merosin def CMD)
• 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 subtypes included in CMDIR:

• Actin aggregation myopathy
• Cap disease
• Central core disease
• Centronuclear myopathy
• Congenital fiber type disporportion
• Core rod myopathy
• Hyaline body myopathy
• Multiminicore myopathy
• Myotubular myopathy
• Nemaline myopathy
• Tubular aggregate myopathy
• Zebra body disease myopathy
• Congenital myopathy, other

Later onset subtypes of myopathy included in CMDIR:

• Reducing body myopathy
• Sarcotubular myopathy
• Spheroid body myopathy

The CMDIR is available in English, Spanish, French, Portuguese 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.

To launch a specific LGMD2I trial, we will need to have all FKRP patient information in one location, the FKRP international registry.  The CMDIR asks all people with confirmed FKRP mutations to register in the international FKRP registry (www.fkrp-registry.org). 

CMDIR is sponsored by

The following countries are currently represented in the CMDIR:

CMDIR participants have the following diagnosis: