Throughout the 1990s and the first decade of the 21st century, MDA-supported researchers identified dozens of genes that, when defective, cause LGMD.
This gene identification work continues to the present day, along with research to determine the precise function of these genes so that missing functions can be compensated for and toxic functions can be inhibited.
Simple devices like a cane or a long-handled reacher can make things easier as weakness progresses.
A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. People whose LGMD has reached this stage often find that a great deal of their independence returns, and they’re much less fatigued when they begin using this type of mobility equipment.
There are at least 19 forms of LGMD, and they’re classified by the genetic flaws that appear to cause them. Some 15 specific genes that lead to production of muscle proteins have been implicated as definite causes of LGMD when they’re flawed. MDA research was behind much of the work that identified these LGMD genes.
Genes, located on chromosomes in each cell in the body, are the codes, or recipes, for production of the body’s various proteins. The genes associated with LGMD normally make proteins necessary for muscle function.
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any laboratory tests are done.
The doctor also wants to determine whether the patient’s weakness results from a problem in the muscles themselves (as is the case in muscular dystrophy), or in the muscle-controlling nerves, called motor neurons, that control them.
Often, people with LGMD first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs.
Caroline has been painting for several years and received awards at the annual Art adventures local art show for three years. Her favorite activities include working on the computer and spending time with her friends.
Jennifer received a bachelor’s degree in graphic design from the Savannah College of Art and Design. She worked as a portrait artist at Busch Gardens in Williamsburg for four years and is employed as a graphic designer.