The muscular dystrophies are a group a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. History of muscular dystrophy
Children’s Hospital Boston has a long history of conducting innovative research on muscular dystrophy and other neuromuscular disorders. In fact, the gene responsible for Duchennes muscular dystrophy (DMD) and Becker’s muscular dystrophy was first discovered here in 1986. That landmark finding revealed one of the first genes ever connected to an inherited disease. We constantly work to improve the care we are able to give our patients. We conduct numerous clinical studies on neuromuscular diseases, and we are one of five sites in the United States funded by the Muscular Dystrophy Association to conduct multi-center clinical studies. Our physicians also have strong ties to research laboratories at Children’s that are locating the molecular underpinnings of neuromuscular diseases and developing potential treatments. Some of the current research on muscular dystrophy includes: Basil Darras, MD, Director, and Division of Clinical Neurology also does research focused on the genetics, diagnostics and treatment of pediatric neuromusacular disease. One condition he specializes in is Duchenne muscular dystrophy (DMD), where he was one of the first to illustrate germline mosaiacism in DMD, a biological phenomenon with important implications for the genetic counseling of affected families. What are the causes of Muscular Dystrophy?
Researchers are quickly learning more about what causes the genetic disorder that leads to muscular dystrophy, and about possible treatments for the disease.
There are many types of muscular dystrophy that are caused by mutations in several...