Limb-girdle muscular dystrophy (LGMD) is also known as or subsumes Limb-girdle dystrophy. -ed
The previously wastebasket term “limb girdle muscular dystrophy” has been transformed into a multitude of specific, genetically defined disorders. Defects are found in diverse cellular components including extracellular matrix, cell membrane and associated proteins (sarcoglycans, caveolin-3, dysferlin, integrins), cellular enzymes (calpain-3), organelle or sarcomere function (telethonin, myotilin, titin), and nuclear envelope (lamins). The group is separated into autosomal recessive and dominant forms. Numerous allelic associations have been made with several gene products. Discovery of the cause of many genes has led to scientific advances in the understanding of muscle function and will hopefully lead to treatment options. Testing for many forms is available on a commercial or research laboratory basis. Dr. Louis H. Weimer from Columbia University College of Physicians & Surgeons discusses current clinical and scientific knowledge of this rapidly evolving field.