About Duchenne MD
Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that gradually weakens the body’s muscles. It is caused by a change in a gene responsible for making the protein dystrophin, which is necessary for muscle tone and function. This change is referred to as a mutation. When there is a mutation in this gene, the protein dystrophin does not work. The muscle cells become weak and they gradually break down. DMD usually affects boys, about 1 in 3500; it is extremely rare in girls.
DMD is a progressive disease. At first, the weakness is mostly in the legs and hips. Those affected fall frequently, have trouble running and climbing stairs, struggle to get up from a sitting position and often walk on their toes. Eventually, the muscle weakness makes walking more difficult and a wheelchair is needed. Most children with DMD are using a wheelchair by the time they are 12. Gradually, all the muscles become very weak – including the heart muscle and the muscles used for breathing. Sadly, nothing can stop the progression of DMD. By their mid 20’s, the disorder is severe enough to cause death, usually as a result of complications with breathing.
There is no cure yet for DMD although a healthy lifestyle, exercise and medication can contribute to a better quality of life for those with the disease. There is promising research being conducted, however, and those affected by DMD remain hopeful that a cure will one day be found. Until that day, those affected by DMD, children and their families, continue to live their lives like everyone else, going to school, spending time with friends and family, and enjoying life. Jennifer, Errict and Alex are no different.