Limb Girdle Muscular Dystrophy type 2G (LGMD2G) is a late onset, recessive form of muscular dystrophy caused by mutations in the gene TCAP. It was initially considered a very rare from of LGMD but recent reports and allele frequency data from ExAC for mutations suggests it may be not be as rare particularly in East Asian and South Asian patients.
The overall goal of the foundation is to raise awareness of LGMD2G and build a patient registry to enable clinical trials and motivation for biotechnology companies to invest in research and therapies for people with this disease!
Questions that people typically ask after a diagnosis.
Did my health care provider get it wrong?
Your doctor is most likely correct with the clinical diagnosis that you have a form of muscular dystrophy. A genetic test is necessary to determine what form of muscular dystrophy that you have and if it’s indeed LGMD2G, which is due to mutations in TCAP. A link to Clinical sequencing gene panels that contain TCAP gene. Alternatively, Exome and Genome sequencing also is able to detect mutations in TCAP.
How will my disease progress?
The disease has only been genetically characterized since 2000 so there does not exist any systematic studies looking at natural history (i.e. disease progression) for people with LGMD2G.
Is there currently treatment or a cure for this disease?
No. There are current clinical trials aimed at other forms of limb girdle muscular dystrophy (LGMD) but many of these are gene specific and is not directly applicable to LGMD2G. We will aim to keep the clinical trials link of related studies up to date.
Is there a support group and resources out there for people with my disease?
Yes. It’s recommended that you get connected with your local Muscular Dystrophy Association or similar so you can be involved in community and fundraising events. There are also very good Facebook groups you can join, if you live in a remote location and/or there are no local groups that you can join. We recommend joining the following facebook groups:
Limb-girdle muscular dystrophy type 2G
Limb Girdle Muscular Dystrophy (Beyond Labels & Limitations, Inc.)
Living with Limb-Girdle Muscular Dystrophy
Muscular Dystrophy Subtype Unknown
Besides my doctor, who else can I direct my questions?
Your doctor still should be the first point of contact regarding the management of your health. We are happy to help answer any research related questions or point you to the best person.