Duchenne muscular dystrophy (DMD for short) is a genetic disease that is characterised by progressive decline in muscle strength as being the continual growth of weakness due the variations in a dystrophin-like protein essential to keep muscle tissue in good health. Duchenne muscular dystrophy first discovered by French neuroscientist Guillaume Benjamin Amand Duchenne back in 181860. Duchenne muscular dystrophy (DMD) is among a handful of disorders in the dystrophinopathies group that includes Becker Muscular dystrophy. The first onset of DMD symptoms typically occurs at the age of a child. The disease is most prevalent among males, although girls may be affected in rare instances. The incidence duchenne muscular dystrophy ranges from about 6 per 100,000.
The most prominent characteristic of Duchenne muscular dystrophy is weakness in the muscles that could start as early as 2 or 3 years old. The weakness that is present at the beginning is actually affecting the muscle groups in the proximal region that are those that are closer to the core within the body. It’s not until later that the distal leg or arm muscles are affected. Most often the lower limb muscles groups are affected prior to the upper muscle groups of the limbs. The child affected typically has trouble running, jumping as well as walking. Other symptoms include an increase in calves and thighs, waddling form of walking, and an inward-facing contour of backbone. Then, the heart and breathing muscle groups are affected also, leading to issues there.
The gradual weakness and spine muscles weakness results in diminished lung mobility that could eventually lead to a serious respiratory problem, which could be life-threatening. Becker muscular dystrophy can be similar to Duchenne muscular dystrophy. However, the development usually occurs in the teens and the course of the disease is more gradual and more unpredictable in comparison to Duchenne muscular dystrophy.
In 1986, researchers discovered an individual gene on the X chromosome, which in the event of being defective (mutated) results in the muscular disorder Duchenne. The protein that is linked to the gene has been swiftly identified and called dystrophin. The absence of the dystrophin protein within muscle cells that causes the cells to weaken and susceptible to being damaged. DMD is an recessive inheritance pattern that is X-linked and is passed down through the mother, called carrier. Females who carry it have the dystrophin gene that is typical that is located on a single in the X chromosome as well as an abnormal dystrophin gene located on the opposite side of the X chromosome. Most people who are carriers of Duchenne muscular dystrophy do NOT possess symptoms of the disease.
There is currently an effective treatment for duchenne muscular disorder, but the treatment could prolong the period of time that a person suffering from the condition typically is mobile and helps to improve the heart and lung muscle strength. The treatment options consist of physical therapy, drugs as well as occupational therapy as well as surgeries or other surgical treatments. Continuous examinations of swallowing, walking breathing, hand strength, and breathing are carried out by the team of therapists so that they can adjust treatments as the condition progresses. In the past, the those who develop DMD generally did not last long past the age of teenagers. Recent advances in the field of respiratory and cardiac therapy has resulted in increase in life expectancy and a lot of young adults who have DMD are now able to go to university, marry and even have children. Life expectancy into the 30s is a common occurrence.
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