International LGMD Patient Registries
Have you &/or a family member received genetic confirmation of your Limb Girdle Muscular Dystrophy (LGMD) sub-type? If so, please be sure to have your name and information entered in the PATIENT REGISTRY for that diagnosis.
When you register, you may have access to the following services, depending on the registry:
- General information about your disease
- Help to find appropriate experts (both scientific and clinical) in your country or area
- Information about ongoing or upcoming clinical trials relevant to your disease
- A source of knowledge about treatment options that are under development
PATIENT REGISTRY PER CONFIRMED DIAGNOSIS:
- LGMD1A- 1H – all autosomal dominant form of LGMD
- Go to https://lgmd1d.org
- LGMD1B – caused by mutations in the LMNA gene
- Go to: www.cmdir.org
- LGMD1D – caused by mutations in the DNAJB6 gene
- Go to https://lgmd1d.org
- LGMD1F – caused by mutations in the TNPO3 gene
- LGMD2A – caused by mutations in the CAPN3 gene
- Go to: http://lgmd2a.org/registry
- LGMD2B/Miyoshi Myopathy – caused by mutations in the DYSF gene
- Send your name, contact information, and copy of genetic report (if possible) via e-mail to: patients@jain-foundation.org
- LGMD2C – caused by mutations in the gamma sarcoglycan (SGCG) gene
- LGMD2D – caused by mutations in the alpha sarcoglycan (SGCA) gene
- LGMD2G – caused by mutations in the TCAP gene
- Go to: www.cmdir.org
- LGMD2I – caused by mutations in the FKRP gene
- Go to: www.fkrp-registry.org
- LGMD2J/Tibal Myopathy – caused by mutations in the TTN gene
- Go to: www.mtmcnmregistry.org
- LGMD2K – caused by mutations in the POMT1 gene
- Go to: www.cmdir.org
- LGMD2L – caused by mutations in the ANO5 gene
- LGMD2M – caused by mutations in the FKTN gene
- Go to: www.cmdir.org
- LGMD2N – caused by mutations in the POMT2 gene
- Go to: www.cmdir.org
- LGMD2O – caused by mutations in the POMGnT1 gene
- Go to: www.cmdir.org
- LGMD2S – caused by mutations in the TRAPPC11 gene
Other Diseases:
- Bethlem – caused by mutations in either the COL6A1, COL6A2, or COL6A3 genes
- Go to: www.cmdir.org
- EDMD – caused by mutations in either the EMD, FHL1, SYNE1, SYNE2 or LMNA genes
- Go to: www.cmdir.org
- ISPD – caused by mutations in the ISPD gene
- Go to: www.cmdir.org
- Duchenne or Becker Muscular dystrophy – caused by mutations in the DMD gene
- FSHD –caused by mutations in the SMCHDI gene or contraction of the D4Z4 region on chromosome 4
- Hereditary Inclusion Body myositis (HIBM) – caused by mutations in GNE gene
- Pompe – caused by mutations in GAA gene