Duchenne Muscular Dystrophy

Duchene muscular dystrophy
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Introduction
Duchenne muscular dystrophy (DMD), fall in the category of genetic diseases that can be inherited. It’s among the nine types of dystrophy which are characterized by continual muscle degeneration and weakening. When dystrophin is absent, the muscle cells are not capable of remaining intact and this leads to DMD as shown in (Yiu & Kornberg, 2015). The symptoms start early in childhood in children aged between three to five years. Boys are the typical victims although at times girls can be attacked too.
Etiology
Until the early 1980s, the origin or existence of DMD was not known. A scientific study that was supported by Mechanics-Dynamics-Aesthetics (MDA)- researchers in 1986. It was noted that a gene mutation on the X-chromosome led to the development of two types of dystrophy that is Duchenne muscular dystrophy and Becker muscular dystrophy. Genes are made of code that for specific proteins for a particular function in the body as indicated in (Yiu & Kornberg, 2015). In this context, Dystrophin is the protein that gene are supposed to code correctly and produce it that will help in keeping the cells of muscles intact and hence make it strong to allow movements. When the genes codes and fails to generate functional dystrophin, the forms of DMD stated above occurs. The only difference between Becker muscular dystrophy and Duchenne muscular dystrophy is that partial dystrophin is produced while no dystrophin is produced respectively.

In Becker’s condition the partially functioning dystrophin produced, slows the process of muscular degeneration.
Pathology
Duchenne muscular dystrophy is a genetic neuromuscular disorder that can be inherited. The absence of dystrophin protein leads to muscle degeneration and subsequent weakness since it the one responsible for keeping the muscle cells together as shown in (Deconinck & Dan, 2007). As a protein element in the muscle fiber, it is supposed to stabilize the plasma membranes of the muscle cells. A mechanical damage can be induced by eccentric contractions that apply excessive force to the layers that can easily break. The effect leads to a destruction of the cells and calcium is lost, and the cell dies. Following such events of the death of the muscle cells, subsequent activities contribute to the Duchenne muscular dystrophy. There is altered regeneration to replace the dead cells, fibrosis, the vascular adaptation mechanism gets impaired, and inflammation contribute to the development of Duchenne muscular dystrophy.
Impairment
In a research study that was archived in the US Library of Medicine, it was noted that people with Duchenne muscular dystrophy apart from not being capable of moving with the help of a wheelchair, they had developed a respiratory impairment and used some home mechanical ventilation systems as shown in (Overview Duchenne…..,n.d). The victims were dependent and were supported primarily in all daily activities. With the progressive muscle degeneration from age three, by age ten most victims were already using wheelchairs. By the time, they have started their teenage hood if they are never given mechanical aids to help in respiration they may die by age twenty. Before the home, mechanical ventilation was invented in the 1980s, the victims of Duchenne muscular dystrophy never reached adulthood. But currently some of the cases feel slightly independent since they are not entirely dependent on the assistance for daily activities.
Disability
Duchenne muscular dystrophy is a genetic disorder that progressively weakens the muscles and the subsequent inability of muscle and skeleton coordination that lead to an inability to move by the victims. It starts early in life by age three and by the time a child becomes s teenager they cannot move as shown by (Dreyer, Steffensen & Pedersen, 2010). The children cannot walk, jump, and cannot change position while sleeping. Mild mental retardation is one of the disabilities that these children exhibit as their condition progresses. The pathological symptoms that involve the respiratory and the cardiac muscles lead to death by age twenty although some make it to age thirty-five. The physical and mental disabilities described above hinders the children from reaching their full potential since it keeps them dependent (Dreyeret al., 2010). For instance, those who have some ability can only move in waddling movements. Mental disabilities in some cases are too severe that they can never be taken to schools for children with special needs.
Demographic data ( incidence, prevalence, and gender differences).
The male has XX chromosomes and female have XX, the faulty gene that is associated with Duchenne muscular dystrophy is located on the X chromosome. A child receives half genes from both parents to make a full set. If a girl inherits a faulty gene that will lead to Duchenne muscular dystrophy from one parent, another parent contributes the same gene but without flaws and hence can develop Duchenne muscular dystrophy(Overview Duchenne…..n.d). On the other hand, boys have only one X chromosome, and if one parent contributes a faulty gene, there is no option apart being incorporated into the general gene pool and subsequent development of Duchenne muscular dystrophy. This brings the gender difference explaining why boys are the most frequent in reports of cases Duchenne muscular dystrophy.
Between age 7 and age 13 the children have lost the activity on their limbs and death by years along the twenties. Averagely the cases are diagnosed at age five. In every 3500 make births, it is estimated that 0ne had to be a Duchenne muscular dystrophy case in the USA, which interprets to 2.9 boys in every 10,000 births of boy children as indicated in (Filippo, Parisi, & Roccella, 2014). In a 20007 report, the prevalence according to CDC researcher was 1.3 to 1.8 cases in every 10,000 births of age between five and 24 years. More than 90% of males of age 15 and over were using wheelchairs since they had been rendered crippled by the Duchenne muscular dystrophy condition. Most of the cases were between 1983 and 2007 (Filippo et al. 2014).
Duchenne muscular dystrophy affects boys, and the incidence stands at 1 cases for every 3500 live births of boys. Girls frequently become asymptomatic. A slight percentage of female carriers exhibit mild symptoms of the disease. The disease is progressive and between age 5 and 13 a child cannot use their lower limbs for movement. Heart and respiratory problems lead to their death. Once they cannot move, scoliosis and contracture follow in a quick succession.
Impacts (Psychological, educational, and social)
Duchenne was a French scientist and even before a substantial research by the MDA- supported researchers in 1986, he had already described intellectual challenges by1868 for patients of Duchenne muscular dystrophy as shown by (Filippo et al. 2014). Further research has shown that DMD has been linked with memory impairments. Also, some psychological studies have indicated a personality disorder for children with Duchenne muscular dystrophy.
Children with compromised intelligence capacities have stringent chances for participating in academic fields. They are either taken to schools for children with the similar disability or kept at home. As a result, they never get a chance to exploit their full potential (Filippo, et al.2014).. With memory loss as explained above, they can barely remember concepts taught in class. Some cases cannot move even their fingers and hence hindered from participating in academics.
By age, five children are supposed to be actively playing and walking around. By this age children with Duchenne muscular dystrophy have lost ambulation and cannot walk or jump as shown in (Overview Duchenne….n.d). They are immobile and suffer the solitude; they may develop personality problems if not given attention to the antisocial disorder.
In conclusion, Duchenne muscular dystrophy is a genetic, developmental disorder that is diagnosed at the early age of a child. Boys are the most affected with girls being asymptomatic or exhibiting mild signs. In the USA for every 3500 births of boys, one is a DMD case. These children cannot move between age five and 13 and are forced to use wheelchairs. They die for complication caused by the heart and respiratory systems. Treatment for this disorder focuses on slowing the muscular degeneration rate.
References
Deconinck, N., & Dan, B. (2007). Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatric neurology, 36(1), 1-7.
Dreyer, P., Steffensen, B., & Pedersen, B. (2010). Living with severe physical impairment, Duchenne’s muscular dystrophy and home mechanical ventilation. 5(3. Retrieved November 15, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2915819/
Filippo, T., Parisi, L., & Roccella, M. (2014). Psychological Aspects in Children Affected by Duchenne De Boulogne Muscular Dystrophy. Retrieved November 15, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253365/
Overview Duchenne Muscular Dystrophy. (n.d.). Retrieved November 15, 2015, from https://www.mda.org/disease/duchenne-muscular-dystrophy/overview
Yiu, E. M., & Kornberg, A. J. (2015). Duchenne muscular dystrophy. Journal of paediatrics and child health.