Muscular Dystrophy Research Paper

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

This rare disease affects 1 in 3,500- 6,000 males. A key indicator a child has Duchenne is muscle weakness. This means a child may have difficulty getting up after sitting down and difficulty walking. Often times kids with Duchenne are walk on there toes and can

Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s

Duchenne muscular dystrophy (DMD) is caused by a mutated gene in the X chromosome. This flawed genes is passed on by the mother. However, most carrier of the gene do not show signs or symptoms of the disease. The The flawed gene causes the improper production of the protein dystrophin which is accompanied by “defective dystrophin-glycoprotein complex (DGC) in the sarcolemma and leads to progressive muscle degeneration” (Nakamura & Takeda, 2011). The Dystrophin protein is vital in providing a muscle integrity. Therefore, the absence of dystrophin production can lead to muscled atrophy.

Duchenne Muscular Dystrophy is one of the most severe yet common cases of Muscular Dystrophy that occurs mainly in boys of younger age. Guillaume Benjamin Amand Duchenne, who was a French neurologist, was the first to discover this disorder in the 1860s (Emery, 2008, pp. 25). This disease is an X-linked disorder which affects the skeletal system, and causes rapid muscular weakness and heart muscle problems. It’s stated that 1 out of every 3,600 males will be diagnosed with Duchenne Muscular Dystrophy (Bushby, 2009, pp.1). According to the Muscular Dystrophy Association, symptoms usually begin to show between the ages of 3 to 5 years old. (pp. 1) Some of the symptoms may include delayed in walking, regularly falling, learning difficulties,

As shown in Figure 1, this presents the most common scenario that is passed down to children since most people with the disease do not have a long enough life expectancy, and most females who get both affected X chromosomes by a carrier mother and affected father is very unlikely. The chart explains how the males who receive the disease get it from a carrier mother who is unaffected by the disease as the one affected X chromosome is masked by unaffected X chromosome; a task that the Y chromosome cannot achieve, thus making the male population inclined to receive it more likely than females. Figure 1 illustrates a more detailed Punnett Square depicts the common scenario. Duchenne Muscular Dystrophy is caused by a mutation of the dystrophin gene at locus Xp21, located on the short arm of the X chromosome. The DMD disease occurs primarily from frameshift mutations in the dystrophin gene. Just short of 70% of cases of DMD occur from deletion of the dystrophin gene, 10% of cases occur from the harmful addition of the gene. The remaining cases (that have medically been recorded), have occurred because of disastrous point mutations that change in the DNA sequence.

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

Due to this males are more susceptible to getting this disease because the duchenne gene is founded in the X chromosome which causes eight out of ten males to have DMD.(Alicia Foose,PhD, Patricia Ardovino,PhD,2008, p.141) It affects girls in very rare cases. DMD is hereditary and happens when a female has one normal X chromosome and one X chromosome that has the Dystrophin gene.This is why females are more than likely to not get the disease and why they are carriers of it. Most of the time females that are carriers show no symptoms and don’t even know themselves that they are carrying around the Dystrophin gene.

There are differences and similarities between multiple sclerosis and muscular dystrophy. Multiple sclerosis is understood to be an autoimmune disease that affects the central nervous system. However, muscular dystrophy is a genetic disorder that affects the peripheral nervous system. Multiple sclerosis is seen as progressing asymmetrically from the loss of myelin. Likewise, muscular dystrophy presents with a symmetrical wasting of the muscle and distribution of weakness. Muscular dystrophy is a group of similar conditions that affect the voluntary muscles. Multiple sclerosis is often diagnosed in the late twenties while muscular dystrophy offsets in young and adolescent aged individuals.

Muscular Dystrophy (or MD) is a general term representing more than 30 inherited diseases and subcategories that affect the skeletal, and in some cases involuntary, muscle regions (Hegde, 2012). The gene is recessively X-linked, meaning that females are carriers of the mutation even if they do not have the disease, and males will either have it or not. The X-linked characteristic of MD is the reason why most types are seen more abundantly in males. MD can lead to the symptoms seen in the 1800s; inability to walk or function properly, substantial weakness, and potentially death. The reason behind differencing types of MD is because no one case is the same; they are categorized based of the areas of the body that are affected, the ages that symptoms become present, and the level of intensity of the disease. Duchenne Muscular Dystrophy is present only in boys, from birth; however, symptoms do not usually show until the ages of 3-5. Another widely existing disease is

According to Medical News Today, muscular dystrophy is a disorder that is characterized by the progressive loss of muscle mass and consequent loss of strength(Newman). There are specific causes that effect the body, and thus creates certain symptoms that are noticeable initially, and symptoms that occur later on in the process. I will be discussing the causes, symptoms-both initial and later, diagnosis, treatment, and prognosis. In order for one to be classified as having muscular dystrophy, there are certain causes that are very unique to this disorder. First off, though let me say that there are different types of muscular dystrophy, which are: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal,

A Distrofia Muscular de Duchenne é uma doença hereditária, caracterizada por uma degeneração muscular progressiva, causando fraqueza (Emery, 1993). Por ser uma condição recessiva ligada ao cromossomo “X”, a DMD afeta predominantemente meninos, e estudos recentes reportam que sua incidência geral corresponde a 1:4087 (Mendell at al., 2012).