PatientCrossroads CMD

Frontpage Slideshow | Copyright © 2006-2011 JoomlaWorks Ltd.

Register Now!

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) 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.  To date, we have over 2,600 registrants from 80 countries.

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.

Disorders We Register

The following subtypes are followed in our registry, and include the full spectrum from early (congenital) through late onset.  Click here to view the list of genes associated with these disorders. 

Congenital and Limb Girdle Muscular Dystrophy

  • Alpha 7 Integrin Related Myopathy
  • Alpha 9 Integrin Related Myopathy
  • Collagen VI Related Myopathy (Ullrich through Bethlem CMD)
  • Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWSMEB, Fukuyama, FKRP, LGMD: 2I, 2K, 2M, 2N, 2O 2T, 2U, 2V)
  • 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)
  • CMD Not Otherwise Specified (including Merosin Positive)

Congenital Myopathy

  • 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 Disproportion (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
  • Titinopathy, Titin Related Dialated Cardiomyopathy, LGMD2J
  • Tubular Aggregate Myopathy
  • Zebra Body Disease Myopathy
  • Congenital Myopathy Not Otherwise Specified

Congenital Myasthenic Syndrome
Escobar Syndrome

Myofibrillar Myopathy

Related Disorders
Heart Disorders resulting from mutations in LMNA or Emerin
Heart Disorders resulting from mutations in TTN
Malignant Hyperthermia resulting from mutations in RYR1

Additional Registries and Advocacy Groups for Subtypes Followed in the CMDIR


Disorders 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.  If your website is not listed, please let us know at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .