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Essay on duchenne muscular dystrophy treatments
Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene
Duchenne muscular dystrophy is a serious condition caused by a recessive allele of a gene
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There are many diseases in the world, some you are born with others you just happen to get. There are some diseases that just happen to males and some diseases just happen to females. One of the diseases you could be born with if you are male is called Duchenne Muscular Dystrophy. This type of disease is serious for the males with this condition. A French neurologist named Gulliaume Benjamin AmandDuchenne. Guillaume is best known for his research on nerves and muscles. He studied medicine in Paris and became a physician. After his wife pasted away he became depressed. When he came to Paris he searched around & became interested in these nerve and muscle cases from local hospitals. He is the man who discovered Duchenne Muscular dystrophy in …show more content…
the 1860s. DMD is a genetic disorder causing weakness to muscles. Unfortunately this is a condition that effects males only do to X chromosomes. How does DMD only affect males?
Every male inherits an X chromosome from their mother and a Y chromosome from his father which makes him male. Females get two X chromosomes from each parent. With those two X chromosomes the female gets it helps her fight the one that does not have dystrophin protect her muscles. If the mother has a flawed gene there is a 50% chance that the son will have DMD. This makes the mother ‘the carrier’. The absence of dystrophin in the cells causes weakness to the muscles. Symptoms will show about at the age of 2 years-old. As they get older you will notice that it is affecting the body totally different. They have a sway back, their arms and legs look out of place. The male’s body that is just so badly affected has wheel chairs at a young age others have tiny crutches to help them elevate their body, helping with balance. It is very painful itself to your body.You can live up to the age of 25 years-old for the reason being that the disease is just damaging your muscles. During the process of aging with this condition there are ways to help you with the muscles. For example, they give you an opportunity to have therapy. Going to therapy helps them in some ways to build up a little more muscles even though the dystrophin is too strong it will still weaken the muscles.Lack of dystrophinweakening the muscle layer in the heart resulting in a condition called cardiomyopathy. As it affects the heart as well that puts more damaged to the males body. This
becomes life-threatening to the young males. DMD often runs in the family. It is also possible for a family with no history of DMD what so ever to have a child born with this disease. Researchers have two explanations for this. First explanation is that long ago generations before have this disease and did not know what it was. Second explanation is that more than one egg cell has dystrophin gene mutation. That puts high risk of having another male child with this disease. All in all there are many diseases in the world. Some with no cure yet or some you are born with. We will not give up on those trying to find a cure for the diseases with no cure at all. Whether you have a disease or not it is always safe to go to a doctor and get checked for any conditions like this.
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.
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 cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)
There he inspired many students and tutored them to become professionals in the medical field. Many of these students included Fabricius ab Aquapendente (gave the first clear description of the semi lunar valves of the veins, which later provided many people with a crucial point in his famous argument for circulation of the blood) and Volcher Coiter (described human embryology as well as the comparative osteology of animals and illustrated his own work.... ... 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).
James Parkinson. It’s not certain how long the disease has existed but its probably been around
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.
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).
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)
Misha Dichter World famous classical pianist who first noticed symptoms of Dupuytren’s when he could no longer stretch his hand to reach all the keys.
One of the most well-known scientists of the 19th century was a German scientist named Franz Joseph Gall. Claimed as the founder of Phrenology, Gall was a pioneer in his fields of neuroanatomy, and physics, and also widely known for his theories and concepts of the localized functions of the brain and phrenology. His primary goal in his studies was to develop a functional anatomy and physiology of the brain as well as a revised psychology of personality. (http://grants.hhp.coe.uh.edu/clayne/HistoryofMC/HistoryMC/Gall.htm) This influential psychologist made many influential contributions, yet controversial at the time, to the study of psychology and the human brain.
William Harvey was a distinguished physician of the seventeenth century. Harvey was educated by some of the great scientists of his time and was highly knowledgeable of the scientist theories preceding his time. Harvey was greatly intrigued by the views of the ancient Aristotle and developed a number of his own ideas based on Aristotle’s theories. It was from Aristotle’s theory of the primacy of blood that allowed Harvey to make breakthroughs about circulation and generation of animals. His advancements greatly enhanced the study of anatomy. Harvey also revolutionized the means by which science was performed through the use of innovative, investigational techniques. William Harvey became a well-known name in science because he made profound accomplishments that changed the way scientists performed and the way people viewed the human body.
XXY is very rarely correctly diagnosed, and there are a multitude of symptoms and complications that it can cause. One of the main symptoms associated with Klinefelter's is infertility, because Klinefelter affects a male’s ability to produce sperm, and makes it so that the patient cannot have biological children. Alongside with affecting a male’s sexual development, Klinefelter negatively impacts a person’s learning ability by impairing many key functions. Stefan, a male diagnosed with Klinefelter syndrome, described his disabilities to include, “Reading comprehension, abstract thinking, understanding of non-visual materials, word retrieval, some slight memory retrieval, auditory processing and the taking of standardized tests”(passage 2). Some other symptoms can also include, but are not limited to, physical changes such as wider hips, higher levels of belly fat, narrower shoulders, and even proportionally longer legs and arms. These specific individuals are also at a higher risk of developing certain medical disorders, comprising of type 2 diabetes, heart valve defects, or even varicose veins. Also, they could develop osteoporosis, which is having weak bones. Consequently, because they individuals have 2 X chromosomes, they are subjected to the same amount of risk of autoimmune disorders and breast cancer as other females. However, many people with Klinefelter syndrome are very good with technology and computer skills, sometimes aiding them in their schools or in the workplace, one its few positive effects. In all, Klinefelter's syndrome can cause many complications and creates a multitude of serious symptoms to the male