Duchenne Muscular Dystrophy Research Paper

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected

The use of creditable and appropriate resources is important for educators because all internet should be adept at critically evaluating information (Rankin, Stallings & London, 2005, p.380). To ensure that information is unbiased, accurate, and up to date and clear to the reader the educator should evaluate each resource that is going to be used (Rankin, et al., 2005, p. 280). Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass (Muscular Dystrophy Canada, 2015). The Muscular Dystrophy Canada has developed a web page available for those effected by muscular dystrophy and their caregivers. It is located at the web address www.muscle.ca. Information on this site

Duchenne Muscular Dystrophy shows its first symptoms in a boy’s early childhood, usually in preschool. The weaknesses of the skeletal and muscular systems start in the pelvis and progress

Duchenne Muscular Dystrophy (DMD) refers to the muscle appearing poorly nourished because of degeneration, which leads to muscle weakness and lost of muscle mass. DMD is a disorder that is caused by genetic mutations in the dystrophin gene. Dystrophin is a muscle that connects the cytoskeleton to the extracellular matrix (ECM). Tidy, D. C. (2016, April 15). When nonsense mutation or frameshift mutation occurs in dystrophin, it results in no protein at all, which causes a severe form of DMD. A dystrophin gene has more base pairs and more exons in comparison to most genes, which means the dysophin gene has a higher chance for mistakes during meiosis. The disorder affects one in 5000 newborn males. Tidy, D. C. (2016, April 15). Males have one

Therefore, individuals that suffer from DMD will usually die in their early 20s, due to infection, heart and/or respiratory difficulties (Blake et al., 2002). During 1961-1982, data was collected on 473 Dutch Duchenne muscular dystrophy patients. By studying this data, it was shown that the median survival was 19.4 years for patients that have already passed the age of 10 years old. About 23.6% of individuals survived 23.3 years at the minimum. On average, patients died 7.9 years after becoming immobile (Essen et al.) DMD can be detected shortly after birth by examining the amount of serum creatine kinase (CK) activity within the infant. Although, diagnosis is usually made during 3 to 8 years (Jennekens FG, et al. 1991). The symptoms of Muscular Dystrophy typically appear between the ages of two and three. The symptoms include falling frequently, increased clumsiness, walking on the toes, stiffness and weakness in the muscles, mental impairment, learning disabilities and

(Chad Haldeman-Englert, 2014) The symptoms usually appear before age 6 and may appear as early as infancy. One of the first noticeable symptom of this disease is the delay in motor milestones; many with Duchenne will take longer to independently stand, sit or walk than average child. (National Human Genome Research Institute, 2013) In toddlers, their enlarged calf muscles causing them to frequently fall over whilst moving. The child may experience occasional pain in the calves and may have some difficulty raising their arms. There is a steady decline in muscle strength between the ages of 6 and 11 years. Most boys are confined to a wheelchair by the age of 12. Muscular weakness and skeletal deformities often leads to respiratory issue. The diaphragm and other muscles that operates the lungs may start to weaken, making it hard to circulate fresh air into the body. The risk of serious respiratory infection is very high. Cardiomyopathy, a chronic disease of the heart muscle that is often a result of the DMD. Most boys will develop this heart disease in their early teens. One third of boys with DMD have some degree of learning disability. Majority of their learning problems occurs in focusing, verbal learning and memorising, and personal interaction. (The Muscular Dystrophy Association (MDA), 2016) Some of the symptoms, such as respiratory infection and cardiomyopathy are common causes of death in DMD

Duchenne muscular dystrophy is a genetic disease that pertains only to males caused by a defective gene and normally leads to many problems affecting a child’s leg movement. This disease got its name from the neurologist, Guillaume Benjamin Amand Duchenne. He was a very consistent doctor who followed many patients medical records. He diagnosed one of his patients with muscular dystrophy and then the disease picked up his name, due to his founding.

Duchenne Muscular Dystrophy was first discovered in the 1860s by a French neurologist which went by the name of Guillaume Benjamin Amand Duchenne de Boulogne. Guillaume was the first to consider multiple types of muscular atrophy and paralysis which were caused by nerve disorders. He discovered that muscular atrophy was caused by a degeneration of the dorsal columns of the spinal cord. During the 1860s, Duchenne de Boulogne assessed and described the progressive muscle weakness within 13 boys. Using an instrument that Guillaume, himself had developed, he was able to remove portions of tissue found deep within the body which assisted with the discovery of biopsy practices.

Individuals with Duchenne muscular dystrophy are at a higher risk for having dyslexia, dysgraphia, and dyscalculia. In a study conducted by Duchenne Parent Project, an organization based in the Netherlands, it was concluded that 40% of the individuals in the study showed difficulties in learning to read or performing mathematics, even among those of average intelligence, compared to the average 3% affected with a learning disability among the general population (Hendriksen, J., Hendriksen, R., Kuijer, Vroom,

Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal

CRISPR Cas-9 is a system that changes genes and shows a further promise for treatment for Duchenne Muscular Dystrophy (DMD). Doing this will hopefully avoid ethical dilemmas. DMD effects nearly 1 in 5,600-7,700 people between the ages of 5 and 24 for males in the U. S. CRISPR stands for “Clustered Regularly Interspaced Short Palindromic Repeats”. These are DNA segments found in microorganisms that repeat itself in open spaces. CRISPR attacks any virus that comes into your body and cuts the strand of virus on the DNA out. Researchers have tried to cure DMD in mice by getting therapy through the back of the eye, one of the ways CRISPR therapy works, which seems to work best.

Like what I previously mentioned the symptoms of Duchenne Muscular Dystrophy begin to arise in the age range of 5 and may include inability use motor skills for instance, running or jumping, speaking skills delayed, weakness on the hips and thighs, and intellectual disability (Haldeman-Englert, 2014, pp. 1-2). A physical characteristic that can be detected from a parent of a child who has Duchenne Muscular Dystrophy is the enlargement of the calve muscles (Emery, 2008, pp. 27).This is a disease that rapidly affects the person who has it. Using a wheelchair by the time the patient is an adolescent is very common in this form of Muscular Dystrophy. Unlike Duchenne, Becker Muscular Dystrophy symptoms are known to be milder and often are not even diagnosed with it until later on in the person’s childhood. Although when the symptoms do arise they may consist of muscle cramps, mild skeletal muscle involvement, and cardiac problems. Depending on the case the patient may need a wheelchair as a way get around while others use canes (Genetics Home

Becker muscular dystrophy is a degenerative muscular disorder mainly affecting the voluntary muscles. This disease was named after the doctor who discovered it in the 1950s. BMD as it is called, affects the heart but not a severely as Duchenne muscular dystrophy. The symptoms of BMD usually start to affect the person during late childhood and adolescence. The first symptoms start with weakness in the legs and pelvis area , as well as the shoulders. It also affects the heart as the myocardium layer of heart muscle tissue slowly deteriorates. As the muscles become weaker, the patient may begin to waddle or walk on their toes to compensate for the weakness of the muscles. The respiratory system is usually the last system affected but eventually