Have you and/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 clinical trials and treatment options that are under development
PATIENT REGISTRY PER CONFIRMED LGMD DIAGNOSIS:
LGMD Subtypes with an Autosomal Dominant Inheritance Pattern (LGMD1 or LGMDD)
LGMD1A- 1H – includes ALL autosomal dominant forms of LGMD
- Go to https://lgmd1d.org
LGMD1B – caused by mutations in the LMNA gene
- May also be referred to as Emery-Dreifuss muscular dystrophy
- Go to: www.cmdir.org
LGMD1D – caused by mutations in the DNAJB6 gene
- May also be referred to as LGMD D1 DNAJB6-related
- Go to https://lgmd1d.org
LGMD1F – caused by mutations in the TNPO3 gene
- May also be referred to as LGMD D2 TNP03-related
- Email mailto:[email protected]
LGMD Subtypes with an Autosomal Recessive Inheritance Pattern (LGMD2 or LGMDR)
LGMD2A – caused by mutations in the CAPN3 gene
- May also be referred to as LGMD R1 Calpain3-related
- Go to: https://lgmd2a.iamrare.org
LGMD2B / Miyoshi Myopathy 1 / Dysferlinopathy – caused by mutations in the DYSF gene
- May also be referred to as LGMD R2 Dysferlin-related
- To apply for inclusion in the Dysferlin Registry, please complete the Dysferlin Registry application
LGMD2C – caused by mutations in the gamma sarcoglycan (SGCG) gene
- May also be referred to as LGMD R5 Gamma-sarcoglycan-related
- Go to: https://www.kurtpeterfoundation.org/patient-registry
LGMD2D – caused by mutations in the alpha sarcoglycan (SGCA) gene
- May also be referred to as LGMD R3 Alpha-sarcoglycan-related
- Go to: https://lgmd2d.org/patient-resources
LGMD2E – caused by mutations in the beta sarcoglycan (SGCB) gene
- May also be referred to as LGMD R4 Bèta-sarcoglycan-related
- Go to: https://www.beta-sarcoglicanopathy.org/gfb-odv/registered-at-gfb-registry.html
- Go to: https://thespeakfoundation.com/lgmd-patient-network
LGMD2G – caused by mutations in the TCAP gene
- May also be referred to as LGMD R7 Telethinin-related
- Go to: www.cmdir.org
LGMD2I – caused by mutations in the FKRP gene
- May also be referred to as LGMD R9 Dystroglycan-related
- Go to: www.fkrp-registry.org
LGMD2J – caused by mutations in the TTN gene
- May also be referred to as LGMD R10 Titin-related
- Go to: www.cmdir.org
LGMD2K – caused by mutations in the POMT1 gene
- May also be referred to as LGMD R11 Dystroglycan-related
- Go to: www.cmdir.org
LGMD2L – caused by mutations in the ANO5 gene
- May also be referred to as LGMD R12 Anoctamin5-related
- Go to: www.lgmd2l-foundation.org/patient-registration
LGMD2M – caused by mutations in the FKTN gene
- May also be referred to as LGMD R13 Dystroglycan-related
- Go to: www.cmdir.org
LGMD2O – caused by mutations in the POMGnT1 gene
- May also be referred to as LGMD R15 Dystroglycan-related
- Go to: www.cmdir.org
LGMD2S – caused by mutations in the TRAPPC11 gene
- May also be referred to as LGMD R18 TRAPPC11-related
- Go to: https://camronscure.com/contact-us/
Bethlem – caused by mutations in either the COL6A1, COL6A2, or COL6A3 genes
- Bethlem myopathy recessive may also be referred to as LGMD R22 Collagen 6-related
- Bethlem myopathy dominant may also be referred to as LGMD D5 Collagen 6-related
- Go to: https://collagen6.org
Other LGMD (not limited to a genetically confirmed subtype)
LGMD – includes all forms of LGMD
Other Neuromuscular Diseases:
Duchenne or Becker Muscular dystrophy – caused by mutations in the DMD gene
EDMD – caused by mutations in either the EMD, FHL1, SYNE1, SYNE2 or LMNA genes
- Go to: www.cmdir.org
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
IBMPFD and/or diagnosed with a VCP gene mutation
ISPD – caused by mutations in the ISPD gene
- Go to: www.cmdir.org
Pompe – caused by mutations in GAA gene
- May at one time have been referred to as LGMD 2V
- Go to: www.registrynxt.com/Pompe/Pages/Home.aspx