Each form of muscular dystrophy is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy patients. They named it for Guillaume Benjamin Amand Duchenne(1806-1875), a French neurologist who was one of the first doctors to discover and study the disease. When functioning properly, the Duchenne gene carries instructions for assembling a muscle protein known as dystrophin. At about 2,500,000 nucleotides, dystrophin is one of the largest genes known. Dystrophin is largely responsible for reinforcing and stabilizing the sarcolemma. Dystrophin associates with the muscle fiber sarcolemma by interacting with the actin microfilaments and with a transmembrane protein complex linked to the extracellular matrix. This latter dystrophin-associated glycoprotein complex (DAGC) includes the extracellular proteo

Boys with Duchenne muscular dystrophy have to not only deal with their muscles wasting away but with other health and/or intellectual problems. Sometimes, diagnosis is brought about by the parents concern of an intellectual handicap. While only a minority of boys with DMD are mentally retarded, it is more frequent than in other children. Unlike the muscle weakness, any intellectual handicap an affected boy may have, is not progressive. Whatever intelligence the child is born with, whether he is of superior, average or less than average intelligence, is what he retains unless affected by something else. As mentioned in a previous paragraph, movement of the joints becomes difficult, if not impossible. A contracture is when a joint's range of motion begins to become restricted. Contractures can be seen early on in the ankles, then in the hips and knees and lastly in the upper limbs. Physiotherapy and occupational therapy are aimed at keeping contractures at bay as long as possible. Sometimes surgery can be used to correct a contracture. Surgery can also be used upon the complication of scoliosis. If the scoliosis is severe it can interfere with the function of the lungs and upper limbs. More and more often, scoliosis is being treated with surgery by inserting a metal rod into the spine to hold it straight. Care has to be taken as to when surgery can be done as the safety of surgery decreases as the age of the DMD boy increases. Another major health problem of those with DMD is the weakening of the respiratory muscles. The function of the lungs in people with DMD depends mostly on the strength of the muscles that move the chest in breathing and coughing. The strength of these muscles is the main factor determining the length of an affected person's life. When these muscles weaken, the capacity of the lungs diminishes. Then the lungs stop functioning adequately, resulting in not enough oxygen and too much carbon dioxide in the blood. The imbalance between oxygen and carbon dioxide causes headaches, drowsiness and a general lack of well being. Assistance with breathing though a facemask may alleviate those symptoms by bringing the oxygen and carbon dioxide levels back into balance. The muscles involved in respiration continue to weaken until breathing can no longer be sustained without the use of a machine.

Until a cure is found 1 in approximately every 3,500 boys will inherit Duchenne muscular dystrophy and eventually die from it. The current treatments only place a temporary obstacle in front of the disease. It is hoped that advancements in the fields of science and medicine will help to speed along the discovery of a cure for this debilitating muscular disease.

Currently, prenatal genetic counseling is the best way to determine the chances of a woman giving birth to a child with DMD. Such counseling is strongly recommended for women who have had males in their family affected by the disease. To find out if a boy has DMD, there are four types of testing. One type is a DNA blood test. This is where the X chromosome is analyzed to see if the Duchenne gene is either absent or mutated. The creatine kinase (CK)

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