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Duchenne muscular dystrophy personal essay
Duchennes muscular dystrophy essay
Duchenne muscular dystrophy personal essay
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As you know Robert was diagnosed with Duchenne Muscular Dystrophy last week. I share my condolences for your family, as this must be a tough time for the both of you. In this letter there will be information regarding what Duchenne Muscular Dystrophy is, how it is caused, how it is treated, and the daily life for those affected with Duchenne Muscular Dystrophy and their family members.
Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only
The three tests that are customarily used to test Duchenne Muscular Dystrophy, and the milder form of the disease, Becker Muscle Dystrophy, are CPK Assay, DNA testing, and muscle biopsy. If your family has a history of either Duchenne Muscle Dystrophy or Becker Muscle Dystrophy (or both), you can have prenatal testing to see if the child will be born with the disease and develop symptoms. A CPK assay can reveal degeneration of the muscles, while a muscle biopsy and/or DNA biopsy will detect the source of the degenerating muscles. Most males with Duchenne Muscular Dystrophy have lost an exon from their mutated dystrophin gene and a DNA test can identify a male’s gene (Micklos, 2002). If the female is carrying the disease DNA testing and a CPK can reveal that information as well. Other young male family members are at risk of inheriting Duchenne Muscular Dystrophy, and a DNA test would detect the mutated gene before he may show
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.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
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.
For the lab test part, in this case we can do a muscle biopsy on him. A muscle biopsy is a procedure that removes a small sample of tissue for testing in a laboratory. The test can identify the disease is caused by nerve or by the muscle atrophy.
Three different tests are used to determine if a male has Duchenne muscular dystrophy. A CPK (also known as a CK) assay will detect muscle damage, but not the source. CPK is an abbreviation for Creatine Kinase Assay, which is essentially a blood test.... ... middle of paper ...
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
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.
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.
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).
By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk for specific genetic conditions; this is known as genetic testing. Unfortunately, genetic testing can vary in its predictive ability. For example, Huntington disease, Duchenne Muscular Dystrophy, Fragile X syndrome and multiple endocrine neoplasia type 2 are conditions that can be determined by genetic testing (Samen, 1996). In contrast, for multifaceted diseases like Alzheimer’s, breast and ovarian cancer and colorectal cancer, predisposition can be determined with genetic testing. However, an absolute diagnosis of those diseases cannot be made (Heshka et al., 2008).
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)
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
In some cases, symptoms and signs could point to a certain mitochondrial disease. Physical examination and laboratory tests are necessary to characterize involvement of various organs and to reach the correct diagnosis. Lab test typically include: blood tests, brain MRI or CT scans, heart tests , ophthalmological and neurological evaluations, and hearing tests. Muscle biopsy is the best way for diagnosis of many mitochondrial diseases. It requires specialized microscopic analysis and biochemical tests, such as measurements of mitochondrial respiratory chain enzyme activities.Finally, genetic testing of blood, urine, or muscle is performed to determine the exact mutation responsible for a specific
~ Mysteriously and in ways that are totally remote from normal experience, the gray drizzle of horror induced by depression takes on the quality of physical pain ... it is entirely natural that the victim begins to think ceaselessly of oblivion. ~William Styron (1925-2006)