Duchenne with a Future: The Power to Live

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This documentary is an effort to understand how young men with Duchenne cope with their illness and its consequences. How they manage stress and maintain a quality of life. About what parents can do and how professionals can contribute best. But above all this documentary is about the key to successfully living an adult life with Duchenne.

Duchenne muscular dystrophy (DMD) is a inherited disorder which is typified by a progressive muscle degeneration and the continuing development of weakness because of the variations to a protein known as dystrophin that is necessary to maintain muscle tissues intact. DMD was initially described by the French neurologist Guillaume Benjamin Amand Duchenne back in1860. DMD is one of a few problems within a group referred to as dystrophinopathies which also includes Becker Muscular dystrophy. The start of Duchenne muscular dystrophy symptoms is usually when they are young. The condition primarily occurs in boys, however females are affected on rare occasions. The occurrence of DMD is around 6 per 100,000 individuals.

The important characteristic of Duchenne muscular dystrophy (DMD) is muscle weakness that might begin as early as age 2 or 3. The weakness initially starts to affect the proximal muscles that are the muscles that are nearer to the core of the body. It is not until afterwards that the more distal limb muscles will be affected. Generally, the lower limb muscle groups will be affected ahead of the upper limb muscle groups. The affected child commonly presents with having problems jumping, running, and also walking. Some of the additional clinical features include an growth of the calves, a waddling type of gait, and an inward contour of the spine. Down the line, when the heart and also respiratory system muscles turn out to be affected as well, bringing about issues there. The gradual weakness and spinal column muscle weakness brings about an impaired lung function, which could eventually cause a critical respiratory failure, and this can be critical. Becker muscular dystrophy is a a lot like Duchenne muscular dystrophy (DMD), but the onset is usually in the teenage years and also the condition natural history for it is slower and it is significantly less predictable when compared to Duchenne muscular dystrophy (DMD).

In 1986 scientists recognized a specific gene about the X chromosome that, if faulty (mutated), contributes to Duchenne muscular dystrophy. The actual protein related to this gene was soon observed and called dystrophin. It turned out this absence of the dystrophin protein in muscle cells causes them to end up being breakable and easily broken. Duchenne muscular dystrophy comes with a X-linked recessive inheritance pattern and it’s handed down from the mother, who’s referred to as a carrier. The females who are carriers have a typical dystrophin gene on a single X chromosome as well as an irregular dystrophin gene on the other X chromosome. Just about all carriers of Duchenne muscular dystrophy don’t themselves have the symptoms of the disease.

Presently there is no remedy for Duchenne muscular dystrophy though the treatment will help lengthen the time someone with the disease usually stays mobile that assist with lung and heart muscle strength. The treatment solutions consist of drugs, physical therapy and work-related therapy, and operative and other surgical procedures. Continuing testing of gait, swallowing, respiration and hand strength are done by the treatment team so they are able to adjust treatment options as the condition advances. Not too long ago boys who are affected by Duchenne muscular dystrophy generally did not survive much beyond his teenager years. Current advances in cardiac and respiratory system care has resulted in a life expectancy raising and lots of young adults with Duchenne muscular dystrophy are now able to attend college, get married, and have children. Life expectancy in to the 30’s has become frequent.

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