What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is an inherited disease that causes the muscles in the body to deteriorate. Compared to other types of muscular dystrophy, Duchenne muscular dystrophy is fast moving. Patients start to display symptoms of the condition around the age of three and usually no later than age six. Many lose the ability to walk on their own by age ten.

Initial symptoms of Duchenne muscular dystrophy include trouble getting up and difficultly remaining upright. Patients may fall over, since the muscles in the legs are greatly weakened. The muscles in other areas of the body, such as the arms and neck, may also be weak. Patients with Duchenne muscular dystrophy may show signs of fatigue and some may suffer from slight mental retardation. Most patients end up confined to a wheelchair in their early teenage years.

As the condition progresses, a person can experience respiratory or cardiac complications. The key cause of death is usually due to weakness in the lungs or heart or from an opportunistic infection such as pneumonia. The life expectancy for someone with the disease is low. Most people do not live past age 30.

Duchenne muscular dystrophy is a genetic condition. The defective gene that leads to the condition is found on the X chromosome, which a child inherits from his mother. Boys are more likely to show signs of the disease than girls, though girls may suffer from muscle weakness and heart problems. A girl who inherits the gene from her mother becomes a carrier and is likely to pass the disease on to any sons she may bear. Although the defective gene is usually passed on from generation to generation, in some cases a new mutation may arise in a family that did not previously have the defect.

No cure for the disease exists, so the best treatment involves keeping a patient functioning and comfortable for as long as possible. Patients with Duchenne muscular dystrophy can undergo physical therapy to lessen the severity of symptoms and to keep their joints flexible and prevent scoliosis, a curve in the spine. Some medications, such as prednisone, a corticosteroid, can help slow the progression of the disease while others can control muscle spasms and weakness. As a preventative measure, patients should get vaccinated against pneumonia and the flu. Finally, support for the emotional toll inflicted by the disease can often be found in support groups for both patients and family members.