Limb girdle muscular dystrophies

Limb girdle muscular dystrophies

Limb girdle muscular dystrophy (LGMD) is in fact not one single condition but a number of different inherited muscular dystrophies that are grouped under the label "limb girdle" because they generally affect the pelvic and shoulder girdles, causing weakness in the muscles in the top part of the arms and shoulders and the hips and thighs.

More information about LGMDs

The list of registries below are currently the only registries available for the LGMDs.

LGMD2A - LGMD2A Patient Registry

The purpose of the LGMD2A Patient Registry is to compile a registry of people who have been diagnosed with limb girdle muscular dystrophy type 2A (LGMD2A), or calpain-3 deficiency (calpainopathy) throughout the world. For any questions regarding the LGMD2A Patient Registry please contact: contact@lgmd2a.org

Patients from anywhere in the world can register.

Register here



LGMD2B - International Dysferlinopathy Registry

The International Dysferlinopathy Registry is designed for patients with the most frequent clinical presentations called Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy, but also for patients with all other clinical presentations related to genetic defects in the gene called "dysferlin".

Register here



LGMD2I - Global FKRP Registry

The Global FKRP Registry is an international registry that collects data from patients worldwide affected by a mutation in the FKRP (Fukutin-Related Protein) gene. Most patients with this type of mutation have a type of limb girdle muscular dystrophy known as type 2I (LGMD2I), but FKRP mutations may also cause a form of congenital muscular dystrophy (CMD) known as MDC1C, and in rare instances the diseases known as Muscle Eye Brain (MEB) disease and Walker-Warburg Syndrome (WWS).

The information collected will help with the identification of patients suitable for clinical trials and allow them to participate more easily.

Patients from anywhere in the world can register.

Register here



LGMD2K, 2M, 2N, 2O - Congenital Muscle Disease International Registry

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

Full list of conditions included in the CMDIR

Register here

 
12 Apr 2017