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Academic journal essays about duchenne muscular dystrophy
Duchenne muscular dystrophy essay
Duchenne’s Muscular Dystrophy case study
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Duchenne Muscular Dystrophy (DMD) is a genetic mutation that is recessive and X- linked. It is located on the ‘p’ arm of the X chromosome (to be more specific, the Xp21 chromosome). DMD is also lethal meaning that the person affected by DMD will die because of it. Because DMD is located on the X chromosome, it mostly affects males. It is immensely uncommon for a female to inherit this gene because her father would have to have DMD and her mother would have to carry the gene. Theoretically, if a mother carries the gene and the father has DMD, there is a 25% chance that if they have a daughter, she will have DMD. But since DMD affects a very small amount of males, this outcome is extremely uncommon.
Normal muscles contain a protein called dystrophin, which without it, the muscle cannot function properly. DMD is a disease that has a shortage of dystrophin in the muscles. The lack of this protein causes these side effects: delayed learning in speech, difficulty in normal activities such as running or walking, and fatigue. Many boys, by the age of six, will start to have abnormally large muscles, intellectual disability (which, if happens, does not worsen), and learning difficulties. Also, heart disease and respiratory problems usually begin by age 20. DMD causes pain and soreness that worsens very quickly, whereas Becker’s Muscular Dystrophy (a different type of muscular dystrophy) worsens much slower. Most boys will be incapable of waking by the age of 12 and will have to use a wheelchair. DMD affects 1 out of every 3,600 boy infants. Because this disease is genetic, the risk of DMD running in the family is very high (MedlinePlus 2013).
With neurological, heart, and muscle exams, many signs of DMD may show. Some of the things th...
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...innett College website: http://wiki.ggc.edu/wiki/Duchenne_Muscular_Distrophy
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Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Myasthenia Gravis is an autoimmune neuromuscular disorder. The term "myasthenia" is Latin for muscle weakness, and "gravis" for grave or serious. It is characterized by random weakness of voluntary muscle groups. Muscle groups most commonly affected include the eye muscles, facial, chewing and swallowing muscles, and shoulder and hip muscles. It is typical for a myasthenic patient to have a flattened smile, droopy eyes and an ineffective cough due to weak expiratory muscles, are all also associated with MG. Most myasthenic patients usually don't complain of extensive feelings of fatigue. They experience localized fatigue in specific, repeatedly used muscles. Today, MG is one of the most thoroughly understood neurological disorders, which has lead to treatments, which enormously improves the length and quality of life of myasthenics.
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.
Many people have never heard of Adrenoleukodystrophy it is a disease that affects every 1 in 20,000 people from all races (Moser, AB HW, and KK Frayer). It is a disease that if not treated properly can possibly kill the child due to difficulties. Adrenoleukodystrophy is passes down from parents to their children as an X-linked trait. Since ALD is X-linked trait it mostly affects male, women can also carry the trait but it will remain dormant. If a woman has ALD she will only display a milder form of the disease unlike the male.
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
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).
During testing, most patients are found to need correction in all 14 balance tests, depending on the ailment the patient complains of and how well they react to the muscle correction will tell whether or not further treatment is needed. The physical aspect of the therapy, despite the name and basic principles, is not the only aspect required for optimal results. One must also report lifestyle and diet changes ranging from daily stress levels to pat...
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)
 Mild, chronic depression has probably existed as long as the human condition, although it has been referred to by various different names. The DSM-III replaced the term “neurotic depression” with dysthymic disorder--which literally means ‘ill-humored’-and it was added to the Diagnostic and Statistical Manual of Mental Disorders, 1980
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's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.
Carroll, D., S. Rodgers, I. Cockerill, and D. Bamber. "Diagnostic Criteria for Exercise Dependence in