Download International LGMD Patient Registries - LGMD-Info

International
Registries
LGMD
Patient
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 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
PATIENT REGISTRY PER CONFIRMED DIAGNOSIS:
LGMD1B – caused by mutations in the LMNA gene
Go to: www.cmdir.org
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:
[email protected]
LGMD2C – caused by mutations in the gamma sarcoglycan
(SGCG) gene
Go
to:
www.kurtpeterfoundation.org/patient_registry
LGMD2D – caused by mutations in the alpha sarcoglycan
(SGCA) gene
Go to:
lgmd2d.org/patient-resources – patientregistry-form/patient-registration-form
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
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
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
Go
to:
www.treat_nmd.eu/resources/patient-registries/list
/DMD-BMD
FSHD –caused by mutations in the SMCHDI gene or
contraction of the D4Z4 region on chromosome 4
Go
to:
www.treat_nmd.eu/resources/patient-registries/list
/fshd
Hereditary Inclusion Body myositis (HIBM) – caused by
mutations in GNE gene
Go
to:
www.treat_nmd.eu/resources/patient-registries/list
/gne-hibm
Pompe – caused by mutations in GAA gene
Go to: www.registrynxt.com/Pompe/Pages/Home.aspx