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Duchenne muscular dystrophy is a progressive muscle wasting disease. It is the most common fatal disease that affects children. It occurs in 1 in 3,500 male births, across all races, cultures and countries. It can happen to anyone. Duchenne is caused by a defect in the gene that codes for the protein dystrophin. Dystrophin is a vital protein that helps connect the muscle fiber to the cell membranes. Without dystrophin the muscle cells become unstable, are weakened and lose their functionality.
Some of the common signs and early symptoms of Duchenne are difficulty in walking, running and climbing. By the age of 6 -7 boys start to fall often and fatigue quickly. Their calf muscles appear large because they become fibrotic. Muscle weakness occurs in the lower extremities first.
By the age of 10-12, most boys are in a wheelchair. There is a continued deterioration of the shoulders, arms and hands. During the mid teens, boys may need help with eating. It is during this time that their back muscles become too weak to support their spine which results in scoliosis. Whilst some boys have rod surgery to straighten their spines, others suffer severe scoliosis.
During the late teens, respiratory weakness occurs in the diaphragm, as muscles that operate the lungs get weaker. Boys often require breathing assistance during the day and night, such as a ventilator or a permanent tracheotomy. Assistance is needed for coughing, and respiratory infections become life threatening. The heart is also involved, and some boys develop an early onset of cardiomyopathy which can lead to heart failure.
Life expectancy varies due to complications of the heart and lung functioning, and the type of gene deletion or duplication. The rate of progression and severity is different for each boy. The general span for life expectancy ranges from the mid teenage years to the mid 20's.
There is no cure, although, in the last 10 years there have been major advances in science and in standards of care. With informed and timely treatment, some boys with Duchenne are living longer lives than ever before.