PatientCrossroads CMD


           
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Register Now!

Click here to register in Spanish, Chinese, or Portuguese, more lanuguages coming soon!

Registered affected individuals are required for:

  • Clinical trials
  • Pharmaceutical investment
  • Government intervention and funding
  • Awareness and advocacy

By registering you will also receive:

  • CMDIR newsletters
  • Notice of available clinical trials that apply to your registered profile
  • Notice of available therapies that apply to your registered profile when they become available

The Congenital Muscle Disease International Registry (CMDIR), including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, 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.  The CMDIR registers through the late onset spectrum for all three 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.

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, and can provide information on institutions who perform genetic testing, the names of medical providers who specialize in the diagnosis and treatment of muscle disease, and community support groups to put you in touch with others affected by a muscle disorder.

The registry includes demographic, disease specific and diagnostic questions.  The CMDIR has online help you can access if you have questions.  If you do not yet have genetic confirmation of disease, CMDIR counselors may be able to assist in finding a testing lab to help you determine your genetic mutation.

The CMDIR is available in several languages via paper registration.  If you wish to complete your registration in a language other than English, please contact us at This e-mail address is being protected from spambots. You need JavaScript enabled to view it to find out if registration is avaible in your native language.

Congenital Muscular Dystrophy subtypes included in the CMDIR

  • Alpha 7/Alpha 9 Integrin Related Myopathy
  • Collagen VI Related Myopathy (Ullrich through Bethlem CMD)
  • Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O)
  • Choline Kinase B Receptor
  • LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient)
  • LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy)
  • RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy)
  • SYNE1 (Nesprin Related Muscular Dystrophy)
  • Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)
  • Congenital Muscular Dystrophy Not Otherwise Specified (including Merosin Positive)

Congenital Myopathy subtypes included in CMDIR

  • Actin Aggregation Myopathy
  • Cap Disease
  • Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Congenital Fiber Type Disporportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Core Rod Myopathy
  • Hyaline Body Myopathy
  • Multiminicore Myopathy
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Reducing Body Myopathy
  • RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis)
  • Spheroid Body Myopathy
  • Tubular Aggregate Myopathy
  • Zebra Body Disease Myopathy
  • Congenital Myopathy Not Otherwise Specified

Congenital Myasthenic Syndrome (all subtypes included in CMDIR)

Myofibrillar Myopathy (all subtypes included in CMDIR)


Congenital Muscle Disease Subtypes Not Followed in the CMDIR
The following subtypes are not followed in our registry, however, if available, we have provided a weblink to the registry that serves each disorder.