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Conclusion on muscular dystrophy
Current research on muscular dystrophy
Conclusion on muscular dystrophy
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Muscular Dystrophy is type of genetic disorder consisting of 30 characterized genetic diseases. Essentially, Muscular Dystrophy reduces the strength of the muscles in your body until eventually they degenerate and lose all function. Each type of this rare disease varies in its affects, symptoms, and severities. However they are all commonly caused by dissimilar genes accompanied by imperfections.
Muscular Dystrophy was first historically recorded in 1830, by Sir Charles Bell, when he composed a paper about an ailment that created dynamic shortcomings in young men. Six years later, in 1836, details regarding muscular symptoms from two siblings were provided by scientists Conte and Gioga. These scientists documented symptoms such as generalized
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In thousands of genes, one undergoes a mutation in proteins crucial to the entire muscle construction. When a protein is modified, an inadequately amount is composed, or is ultimately omitted the cells in the body do not function properly. Spontaneous mutations are frequently the cause of a multitude of Muscular Dystrophy developments. These mutations do not originate from parents however, this deficiency can be transmitted once they have transpired. An individual’s characteristics are established by encrypted information enclosed in genes. Genes are orchestrated along 23 rod-like sets of chromosomes, with 50% of every pair being acquired from each parent. Aside from the set of chromosomes which decides a person’s sex, all pairs of chromosome halves are very much alike. There are three way in which Muscular Dystrophy can be inherited: Autosomal dominate, Autosomal recessive, and X-linked recessive. Autosomal means in each of the body cells a genetic mutation can be generated in any one of the 22 non-sex chromosomes. Autosomal dominate develops when a child obtains from one parent an abnormal gene, and from the other a normal gene. Dominate means, in order to produce the illness only one parent is required to transfer the abnormal gene. There is equally a 50% chance a child, male or female, will receive the gene as well as the disorder when Autosomal is dominate and the severity is different for each individual. When a …show more content…
As previously mentioned, Muscular Dystrophy is hereditary. Apart from prenatal screening no other method has been found to deter the disease. In order to remain autonomous and limit complications derived from deficiencies and difficulties, there are some feasible regimens. Procedures consisting of a combination of physical and drug therapy, as well as surgery are treatments believed to benefit patients. Periodically these methods produce considerable and notably effective results impacting the longevity and quality of
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. www.ncbi.nlm.nih.gov - http://www.ncbi.nlm.nih.gov/.
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
The X-linked form of Emery-Dreifuss muscular dystrophy is caused by the EMD gene that codes for the ubiquitous protein called Emerin. The EMD gene is found on chromosome Xq28. The gene responsible for the X-linked form was identified in 1994. It is located on chromosome Xq28. The STA gene is 2100 bp in length, consists in six exons and encodes 762 bp mRNA. Its 34 kD protein product of 254 amino acids has been designated 'emerin'. Emerin is a protein that is part of the laminar-association protein family. Th...
The Duchenne gene has been located on the short arm of the X chromosome. This means that Duchenne muscular dystrophy is inherited as an X-linked recessive disease. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Therefore, in females, a normal X...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults (Clark, 2010).
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
Duchenne muscular dystrophy (DMD) is one the most common forms of muscular dystrophy and is also the most severe form of muscular dystrophy (“Diagnostic Tools,” 2015) with an approximate incidence of 1 in 3,500-3,600 newborn males, depending on the source (Bushby et al., 2009a; Habermann & Ghosh, 2007; “Duchenne,” 2014) and accounts for roughly half of all people with muscular dystrophy (Mayo Clinic Staff, 2014). Muscular dystrophies are largely characterized by a progressive muscle weakness related to a protein defect. (Mayo Clinic Staff, 2014; “Duchenne,” 2014) In DMD, muscle weakness progresses relatively rapidly, e.g., compared to Becker’s muscular dystrophy, and is caused by an absence of dystrophin (<75), intellectual disability that
DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as acarrier. For more about the way gene mutations cause Duchenne dystrophy, see Causes/Inheritance.