CMDIR: the CMD International Registry

The Congenital Muscular Dystrophy International Registry (CMDIR) was created by the patient advocacy group Cure CMD to identify the global 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.

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

Click here to register

Website:

www.cmdir.org

Email Address:

info@cmdir.org

Contact Number:

+1 323-250-2399

Address:

Cure CMD
3217 E. Carson St. #1014
Lakewood, CA 90712 USA