Duchenne Muscular Dystrophy (DMD)
What is Duchenne muscular dystrophy (DMD)?
Duchenne muscular dystrophy (DMD) is the most well-known of the nine types of muscular dystrophy. It is a genetic disease passed from one generation to the next. Females carry the defective gene that causes the disorder, but males almost exclusively are affected by the disease.
When a mother carries the defective gene, her female children have a fifty percent chance of carrying the gene also, but they will not show any symptoms. However, each male child has a fifty percent chance of having the disease and showing signs of the disorder.
Although the disease is present from conception, symptoms usually do not develop until the child is five or six years old, or even a year or two later.
What are some signs and symptoms of DMD?
- With rare exceptions, DMD affects only males.
- Unless a boy with DMD is known to be at risk because of his family history, he is unlikely to be diagnosed before the age of 2 or 3 years or older.
- Most boys with DMD walk alone at a later age than average, and even then in an unusual manner. They may frequently fall, have difficulty rising from the ground, or difficulty climbing stairs.
- Sometimes there is intellectual handicap, which, although rare in boys with DMD, is more frequent than in other children.
- DMD has an effect on posture and gait -- the way the boy stands, walks and runs -- especially up hills or steps.
- Calf muscles, and sometimes other muscles, look very well developed or excessively large, while other muscles are poorly developed.
- Walking may be described as waddling.
- Whether standing still or walking, the boy usually has an exaggeration of the forward curve of the lower part of the back, sometimes called sway-back. The medical term for this is lordosis.
- Later development indicates a tendency to stand and walk on the forward part of the foot with the heels off the ground.
- Testing of individual muscles or muscle groups reveals a typical DMD pattern of weakness.
What are some of the treatment options for DMD?
At this time there is no cure for DMD. 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 effective in stopping the degeneration of muscle in Duchenne dystrophy.
Medical therapy is aimed at slowing 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
- braces extending from shoes to thighs to facilitate standing and walking. The braces, fitted with hinges at the knees, can be worn even while 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.
Nine out of ten affected children will develop severe scoliosis if nothing is done to prevent it. For this reason, the child will often 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 dystrophy is a serious disease, in most cases, there is little or no pain associated with it. Often, there is no effect on sensations 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 your physician.
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