What is Duchenne's muscular dystrophy?
- Author Craig Payne
- Published November 1, 2022
- Word count 563
Duchenne muscular dystrophy (DMD for short) is a genetic condition which is characterized by a gradual muscle deterioration as well as the continuing development of weakness due to the differences to a protein called dystrophin which is required to retain muscle tissues intact. Duchenne muscular dystrophy was initially described by the French neurologist Guillaume Benjamin Amand Duchenne back in1860. Duchenne muscular dystrophy is one of a few conditions in a group called the dystrophinopathies that also includes Becker Muscular dystrophy. The onset of DMD symptoms is usually when they are young. The condition primarily impacts males, but girls will be affected on rare occasions. The occurrence of Duchenne muscular dystrophy is close to 6 per 100,000 people.
The primary manifestation of Duchenne muscular dystrophy is muscle weakness that might begin as early as ages 2 or 3. The weakness to begin with actually starts to affect the proximal muscle groups that are the ones that are nearer to the core in the body. It is not until later on that the more distal arm or leg muscles will be affected. Usually, the lower limb muscle groups are affected before the upper limb muscle groups. The affected child commonly presents with having problems jumping, running, as well as walking. Some of the other signs and symptoms feature an enlargement of the calves, a waddling type of gait, as well as an inward contour of the backbone. Later on, as the heart and also breathing muscle groups become impacted as well, resulting in problems there. The progressive weakness and spine muscle weakness leads to an impaired lung mobility, which can ultimately trigger a severe respiratory failure, which can be critical. Becker muscular dystrophy is a very much like Duchenne muscular dystrophy, however the onset is usually during the teenage years and the condition course for it is more slowly and is less predictable in comparison to the Duchenne muscular dystrophy.
In 1986 research workers observed a particular gene in the X chromosome which, if faulty (mutated), causes Duchenne muscular dystrophy. The actual protein linked to this gene has been quickly recognized and named dystrophin. It was the absence of the dystrophin protein in muscle cells causes them to become weak and easily damaged. DMD has a X-linked recessive inheritance pattern which is handed down by the mother, who's known as a carrier. The females who are carriers possess a typical dystrophin gene on a single X chromosome and an abnormal dystrophin gene on the other side X chromosome. Almost all carriers of Duchenne muscular dystrophy do not themselves have symptoms of the condition.
At this time there is no cure for Duchenne muscular dystrophy but the treatment can help extend the time an individual who has the condition usually stays mobile that assist with lung and heart muscle strength. The treatment choices consist of drugs, physical rehabilitation and also occupational therapy, and surgical and other surgical procedures. Ongoing assessments of walking, swallowing, breathing and hand strength are performed by the therapy team so they can adapt treatment options as the disorder progresses. In the recent past boys that develop DMD typically did not survive much past their teenager years. More recent advances in cardiac and respiratory therapy has resulted in a life expectancy improving and lots of young adults that have DMD are able to attend university, get married, and have children. Survival in to the thirties is currently common.
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