Patients who are already genetically diagnosed with other non-dysferlin forms of LGMD, HIBM, Pompe, Bethlem, EDMD, FSHD, DMD/Becker

If you have a genetic diagnosis for one of the following muscular dystrophies, we would encourage you to join the appropriate disease specific registry. 

 

When you register with a disease specific registry, you may have access to the following services, depending on the registry:

  • General information about your disease
  • Help finding 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

 

LGMD1B – caused by mutations in LMNA gene - https://www.cmdir.org/

 

LGMD2A – caused by mutations in the calpain 3 gene - http://www.curecalpain3.org/for-patients/

 

LGMD2C – caused by mutations in the gamma sarcoglycan gene - http://www.kurtpeterfoundation.org/patient_registry

 

LGMD2D – caused by mutations in the alpha sarcoglycan gene - https://lgmd2d.org/patient-resources/register/

 

LGMD2G – caused by mutations in TCAP gene - https://www.cmdir.org/

 

LGMD2I – caused by mutations in the FKRP gene - https://www.fkrp-registry.org/

 

LGMD2K – caused by mutations in POMT1 gene - https://www.cmdir.org/

 

LGMD2M – caused by mutations in FKTN gene – https://www.cmdir.org/

 

LGMD2N – caused by mutations in POMT2 gene – https://www.cmdir.org/

 

LGMD2O – caused by mutations in POMGnT1 gene – https://www.cmdir.org/

 

Bethlem – caused by mutations in either  COL6A1, COL6A2, or COL6A3 genes - https://www.cmdir.org/

 

EDMD – caused by mutations in either EMD, FHL1, SYNE1, SYNE2 or LMNA genes – https://www.cmdir.org/

 

ISPD – caused by mutations in ISPD gene - https://www.cmdir.org/

 

Duchenne or Becker Muscular dystrophy – caused by mutations in the DMD gene - http://www.treat-nmd.eu/resources/patient-registries/list/DMD-BMD/

 

FSHD –caused by mutations in SMCHDI gene -   http://www.treat-nmd.eu/resources/patient-registries/list/fshd/

 

Hereditary Inclusion Body myositis (HIBM) – caused by mutations in GNE gene - http://www.treat-nmd.eu/resources/patient-registries/list/gne-hibm/

 

Pompe – caused by mutations in GAA gene - https://www.registrynxt.com/Pompe/Pages/Home.aspx

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