DMD (Duchenne Muscular Dystrophy)

Duchenne Muscular Dystrophy if the most common form of Muscular Dystrophy. It usually effects just boys. Duchenne is an inherited disease. Boys with Duchenne Muscular Dystrophy (DMD) develop weak muscles because the muscle fibers that were present at birth are destroyed. Boys with DMD do not have the genetic material that gives the message to the body to make a protein in the body called dystrophin. Without dystrophin, the development of Duchenne Muscular Dystrophy occurs. During the first few years of life, muscle fibers that break down are continually replaced. Unfortunately, the body has a limited capacity to replace these muscle fibers. Eventually the rate of regeneration cannot keep up with the rate of degeneration. And the final result is that the muscles become weaker.

Although Duchenne is present at birth, the child appears to be perfectly normal. Problems normally don’t show up until around the age of eighteen months to four years of age. Most boys do not walk until eighteen months or later. During the first years of life, these children have difficulties in climbing, getting up from the floor and are unable to keep up with their friends and often can be thought of being clumsy or lazy. Some boys have enlarged calf muscle, which is due mainly to fatty tissue in the muscle. This is a sign of the disease rather than a sign of good strength.

A diagnosis of DMD is made and confirmed with two tests. A Creatine Kinase (CK) test, which is a blood test that looks at the level of CK. Normally there is a small amount in the blood, however, boys with Duchenne, there may be 10 to a 100 times the normal amount. A muscle biopsy, where a small piece of muscle is removed then cut in thin strips and stained with a series of special dyes to show the different types of muscle fibers. Between the age of 3 and 6 many boys seem to be improving, however, by the age of 6 or 7, deterioration becomes obvious. The child finds it harder to walk long distances and there is increasing difficulties walking up stairs, rising from the floor and playing sports. The child's walk becomes more of a waddle, toe walking is noted and the child has an inward curving of the lower back.  A wheel chair will usually be needed between the ages of 9 and 13.

Duchenne Muscular Dystrophy is described as an X-link recessive inherited disease. This means that the disease is past on from the mother through her X chromosome. The mother is known as a carrier. If the mother passes the X chromosome to a daughter she more than likley would not be affected as the daughter has a second X chromosome to control the production of dystrophin. Although, the daughter would herself be a carrier. In one third of all boys with the disease it has been caused by a new mutation so there would be no history in the family of this disease.

Currently, there is no cure for Duchenne Muscular Dystrophy. In recent years, encouraging advances in research suggest that it may be possible in the near future to treat the disease. However, there is still no treatment at this time that has proven to be affective in stopping the degeneration of muscle in Duchenne Muscular Dystrophy. A downfall to the advancement of research is the lack of funding for research for Duchenne Muscular Dystrophy.

Medical therapy is designed at slowly some complications and treating symptoms of the disease. After a careful, thorough evaluation by a physician, management of the disorder may include any/all of the following:
** Regular (daily) physical therapy (PT) sessions
** Braces or splints on the legs, particularly at night
** Surgery
** Braces extending from shoes to thighs to facilitate standing and walking. The braces, fitted with hinges at the knees, can be worn even as the child is sitting. They are comfortable and relatively light in weight.
** A walker may be used in combination with the braces to allow for independent mobility.
** Wheelchair
** Medication

Nine out of ten children affected by DMD will develop sever scoliosis if nothing is done to prevent it. For this reason, the child will undergo another operation in his early teens in which a steel rod is placed along the spine to prevent progressive curvature.

Various types of environmental adaptations may be necessary to help the child remain independent in daily activities, including raised toilet seats, special shower chairs, special desk tops, ramps instead of steps, handrails, and others.

Although Duchenne Muscular Dystrophy is a serious disease, in most cases, there is little to no pain associated with it. Often, there is no effect on sensation and the bladder, bowels, and sexual function develop and continue to function effectively. Individual conditions and symptoms vary, making it especially important to follow the care of the physician. a paragraph. Click here to add your own text and edit me. I’m a great place for you to tell a story and let your users know a little more about you.​

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