Duchenne Muscular Dystrophy: Causes, Symptons and Treatments

DMD is caused by a mutation on the X chromosome. The mutation keeps muscles from making a vital protein dystrophin. Women do not usually get the disease but they can be a carrier, boys will usually get it if they receive a mutated X chromosome from their mother and a Y chromosome from their father. However if the child receives the mutated X chromosome from their mother and a normal X chromosome from their father then that person will become a carrier but will not get the disease because the normal X chromosome will make enough dystrophin for the muscles. Due to the rarity of the mutation only approximately two out of ten thousand males will contract the disease.

Symptoms

Symptoms of DMD will start to show by age six but could start to show by infancy. At first there is progressive muscle weakness in the lower portion of the body and with the weakness come a loss in muscle mass. As the disease progresses muscle weakness also occurs in arms and neck. At first the disease will make muscles in the calves grow very large but eventually this muscle is replaced by fat and the legs are unusable. By the age of ten braces may be needed for walking and by age twelve the patient is restricted to a wheelchair. Other symptoms that may be seen at an early age include extreme fatigue, frequent falls and skeletal deformities in the back and chest.

Treatments

There is currently no known cure for DMD however there has been recent success in gene therapy and there has been recent stem cell research that showing positive vectors may replace damaged muscle. These cures are still experimental so patients that currently have DMD have to try and maximize the quality of their life. Patients do this by participating in physical therapy or other mild non-jarring activities like swimming. DMD patients do this because research has revealed that inactivity makes the disease progress faster. If a DMD patient is able to slow down the progress of the disease the life expectancy of the patient can go from late teens to approximately the early thirties.

Sources

1. "Duchenne Muscular Dystrophy." Medline Plus Medical Encyclopedia. 2006. ADAM. 4 Nov 2008 .

2. "Understanding Muscular Dystrophy." Web MD. 2007. HON. 4 Nov 2008 http://www.webmd.com/parenting/understanding-muscular-dystrophy-basics.