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

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

LGMD1F – caused by mutations in the TNPO3 gene

LGMD Subtypes with an Autosomal Recessive Inheritance Pattern (LGMD2 or LGMDR)

LGMD2A – caused by mutations in the CAPN3 gene

LGMD2B/Miyoshi Myopathy – caused by mutations in the DYSF gene

  • May also be referred to as LGMD R2 Dysferlin-related
  • 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

  • May also be referred to as LGMD R7 Telethonin-related
  • Go to:  www.cmdir.org

LGMD2I – caused by mutations in the FKRP gene

LGMD2J/Tibal Myopathy – caused by mutations in the TTN gene

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

LGMD2M – caused by mutations in the FKTN gene

  • May also be referred to as LGMD R13 Dystroglycan-related
  • Go to:  www.cmdir.org

LGMD2N – caused by mutations in the POMT2 gene

  • May also be referred to as LGMD R14 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

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 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

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

Pompe – caused by mutations in GAA gene


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