Limb Girdle Muscular Dystrophies (LGMDs) were characterized in the clinic before anyone knew what caused the diseases. Consequently, a bunch of different diseases that all looked the same to physicians were lumped together into one category that they called “LGMD.” As science advanced, it was discovered that many different genetic mutations underlie these conditions. Currently, there more than 30 different genetically defined forms (sub-types) of LGMD, and more are found every year.
If your doctor tells you that you have LGMD but doesn’t genetically confirm it, your diagnosis is INCOMPLETE.
Having a genetically confirmed diagnosis is important; as examples, some treatments like steroids will help patients with one type of LGMD and hurt patients with another type of LGMD, some sub-types can experience complications with the heart, breathing, or with anesthesia… so knowing what type of LGMD that you suffer from will help you manage your health. Further, if you want to help researchers and physicians trying to find a cure for your disease by participating in clinical studies and trials, you will need genetic confirmation in order to participate.
How do you obtain genetic confirmation of your LGMD?
Your physician can order genetic tests that look at either a single gene or at a panel of genes that all cause different types of LGMD. The results of this test may identify the mutated gene which is causing the form of LGMD that you have. Once your form of LGMD is confirmed through genetic testing then your diagnosis is COMPLETE!
Patients with a diagnosis of LGMD2A are encouraged to join the LGMD2A/Calpainopathy Registry. An accurate diagnosis and the LGMD2A registry are critical to the planning and conduct of clinical trials in LGMD2A.