Limb-girdle muscular dystrophies (LGMDs) were characterized in the clinic before anyone knew what caused the diseases. Consequently, several 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 variants underlie these conditions. Currently, there are more…
Read MoreIt’s Official: The LGMD community celebrates adoption of ICD-10 diagnostic codes for LGMD
After a two year campaign, those with LGMD will now have a diagnostic code that matches their diagnosis! C3 is proud to have played a role in this victory alongside our friends and advocacy partners, including the Muscular Dystrophy Association, CureLGMD2i, Jain Foundation, Kurt+Peter Foundation, LGMD Awareness Foundation, LGMD1D DNAJB6 Foundation, LGMD2i Research Fund, and…
Read MoreAn LGMD by any other name… is still an LGMD: New nomenclature for the LGMDs
Those who recently attended the National LGMD Conference in Chicago learned that the LGMDs are getting new names. In the old naming system, dominant LGMDs were called LGMD1s and recessive LGMDs were called LGMD2s. The subtypes were further delineated by a letter to designate the gene that contained the disease-causing mutation(s). In the case of…
Read MoreDID YOU KNOW … there are two ways that calpainopathy can be inherited?
In over 90% of calpainopathy cases, it is inherited in an autosomal recessive manner. This means that it can be passed on through families, and that siblings can have the disease. This form of calpainopathy is called Limb Girdle Muscular Dystrophy type 2A (LGMD2A). In this recessive form, for LGMD2A to develop, two copies of the…
Read MoreDo you have genetic confirmation of your LGMD diagnosis?
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,…
Read MoreC3 Lends Support to New Initiative in Genetic Testing for LGMD2A Patients
Coalition to Cure Calpain 3 is excited to announce that we are funding the MYO-SEQ project at the John Walton Muscular Research Centre at Newcastle University (UK). We are partnering with several patient organizations and biopharmaceutical companies to support this program, which collaborates with the Broad Institute of Harvard and MIT to apply whole exome…
Read More