What is Duchennes Muscular Dystrophy?
Duchennes Muscular Dystrophy (DMD) is caused by a mutation of the dystrophin gene, the gene that carries the genetic information or “recipe” for the construction of the dystrophin protein. Without the proper genetic information, the body does not produce a functional version of the dystrophin protein, which normally serves to surround the muscles cells, maintain their structure and hold the muscles together. The dystrophin protein is the largest protein in the body, is found dispersed throughout the skeletal, cardiac and smooth muscle tissue and is also believed to carry signals in and out of muscle fibers. Without this protein, the muscles become increasingly weaker, until the body can no longer survive. Since the dystrophin gene is carried on the X-chromosome, the disease is either passed on by a mother that is a genetic carrier of the mutated dystrophin gene or is caused by a spontaneous mutation in the dystrophin gene after conception. This means that a mother carrying a healthy ge
