...Cellular Pathophysiology Huntington’s disease causes many changes in the immune system and the inflammatory response. According to Ellrich, Reick, Saft and Linker (2013), “increased inflammation in HD might be the response to neuronal death induced by mhtt toxicity” (para. 10). The immune system initiates the inflammatory response that is seen in Huntington’s disease. The exact impact of the innate and adaptive immune system is unknown in Huntington’s disease (Ellrichmann, Reick, Saft and Linker, 2013). It has been proven that the immune system, inflammatory response and stress provide more harm to the body than good. Eventually those diagnosed with Huntington’s disease end up succumbing to an illness that is contracted from a failing immune system (Mayo Clinic, 2014). Huntington’s disease is an autosomal dominant inherited disease that causes cell loss (Revilla, 2014). According to Raymond et al. (2011), cell loss occurs in the striatum, cortex, globus pallidus, thalamus, hypothalamus, subthalamic nucleus, substantia nigra, and the cerebellum. The exact mechanism of cellular death is still unknown in Huntington’s disease. According to Revilla (2014), “Several mechanisms of neuronal cell death have been proposed for HD, including excitotoxicity, oxidative stress, impaired energy metabolism, and apoptosis”. Systemic Dysfunction Huntington’s disease not only affects the brain but the entire human body. According to Zielonka et al. (2014), “patients experience a wide array...
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...Running head: HUNTINGTON’S DISEASE Huntington’s Disease Bradley Amos St. Ambrose University March 21, 2011 Huntington’s Disease Huntington’s disease is a devastating and progressive neurological disorder that results primarily from degeneration of nerve cells deep in the center of the brain that waste away (PubMed Health, 2011). According to National Institute of Neurological Disorder and Stroke (2010) more than 15,000 Americans suffer from this debilitating disease. Nearly all people who develop Huntington’s disease will die within 10 to 30 years from onset. This disease does not show bias to any sex, ethnicity or race. The pathophysiology of Huntington’s disease is inherited as an autosomal dominant trait with high penetrance (Jarvis, 2008, p.360). The symptoms of Huntington’s disease are abnormal uncontrollable movements and personality changes (Jarvis, 2008, p.360). As the disease progresses so does the severity of the symptoms. It is a genetic disease that is passed on from generation to generation. A person can be genetically tested to determine if you have the gene for this disease. To date there is not a cure for this rare debilitating disease (Medline Plus, 2009). Definition of Disorder Huntington’s disease was named after an American doctor George Huntington in 1872. Before it was named by Doctor Huntington it was called “chorea” which means choreography in Greek. It was named so because people affected by this...
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...Huntington Disease Rachelle Jelosek Idaho State University Jackson is a healthy twenty-seven year old male who recently presented to his doctors office inquiring about genetic testing. Jackson recently married, and his wife Alisha is anxious to start a family. Unfortunately Jackson does not share Alisha's enthusiasm because he fears that he is a carrier of a deadly genetic mutation. Just five years ago Jackson's mother was diagnosed with Huntington's Disease at the age of 43 and Jackson's grandmother succumbed to the disease at the age of 68. Jackson is an only child and although unconfirmed and heavily denied by his family Jackson is convinced that his mother discovered her ill fate shortly after he was born. Jackson's wife and father do not want him to be tested for the disorder because they fear a positive diagnosis will destroy any life he has now and in the future . Jackson has endured years of watching his loved ones suffer and does not want to pass the disorder on to his children. The purpose of this paper is to define and describe Huntington's disease (HD), explain inheritance patterns, describe the specific gene mutation seen in patients with HD, discuss reproductive issue and outline the ethical and social implications associated with genetic testing. Huntington's disease was named after Dr. George Huntington, who is credited for discovering the hereditary disorder in 1872(Huntington’s Disease Society of America, 2008). HD progressively destroys neurons...
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...drug or therapy to enhance their future children to make them smarter, better, stronger, to increase their intelligence, height, or other traits (Zane). Testing for medical tendencies to screen and reduce the possibility of future illness or diseases is now feasible. Genetic testing can enhance and improve lives with immeasurable benefits. The rewards of this testing outweigh any reservations. Genetic testing are examinations of blood and other tissues of the body that doctors in the medical field prepare to test for possible defects of the body. These DNA based tests generally involves direct examination of the DNA molecule itself and are very sophisticated techniques of testing genetic disorders in the bodies of human beings. Prenatal genetic testing with the procedure of pre-implantation genetic diagnosis, or PGD is a technique whereby testing is performed of an approximate three-day-old embryo to confirm that it does not carry a particular disease or diseases (Naik). The test predicts, with variable confidence, what the possible medical problems will be in the future. Then the doctor implants this embryo, which is free of that syndrome, in the mother's womb. It appears to be relatively easy to check the DNA and eliminate future diseases that are linked to a single malfunctioning gene such as cystic fibrosis or autism. In the 1990s, this type of prenatal genetic testing, PGD, was first introduced with vast numbers of parents utilizing this screening to avoid the potential hereditary...
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...Benjamin Franklin once said, “An investment of knowledge pays the best interest.” The more knowledge people have, the more it will benefit them. In this case, genetic testing for Huntington’s Disease provides the knowledge that might save lives. Huntington’s is a disease that affects the physical, cognitive, and emotional attributes of the human body. (3) It causes progressive deterioration of the brain cells. (7) It forms in the brain, specifically in the basal ganglia. The basal ganglia controls movement, emotion, and thought organization. The disease destroys the cells that are in that part of the brain. Huntington’s Disease is simply caused by genes. (2) The mutation will show up on chromosome 4 and has repetitive nucleotide triplets that...
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...Tay-Sachs Disease Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted. “Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964) “How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?” (Rapp, 2011) Will it be a boy or a girl? What color will the eyes, the hair be? Whose smile will the baby have? These are just a few of the many questions that begin when parents find out they have conceived a child, and most of the time the questions only grow as the pregnancy progresses too; what will they want to be when they grow up? Who will they look like? Will they be strong, graceful, independent, or determined? Should we look at preschools and colleges now? It may not seem to occur very often that parents will say to themselves; we never thought about how we might parent a child without a future. Now instead of questions that may focus on the...
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...Huntington’s Disease Personal Reference: Down in the Neurology department sat four family members patiently waiting for what seems to be a never-ending check up. As the doctor’s office door peaked open my mother and aunt both walked out with despairing eyes. When I looked up the doctor was handing my mother a best-known neurologist information card. At that moment silence broke out amongst us, as we knew a whole new life experience was on our hands. At age 34 my Aunt Eve was diagnosed with Huntington’s disease. Background/Introduction: Huntington’s disease historical timeline indicates the first made known observation of the disease was by American physician George Huntington in 1872. Examining the symptoms and condition Dr. Huntington wrote a detailed account defining the hidden facts behind the disease. Yet it wasn’t until 1911 when Charles Davenport made major contributions in acknowledging and understanding the sings, symptoms and heritability of HD. The National Library of Medicine defines Huntington’s disease as a genetic degenerative disorder of neurons due to a defect in one part of the DNA. HD is recognized as a hereditary neurological disorder taking a devastating toll slowly diminishing an individual’s ability to speak, walk and reason. Because HD is a programmed genetic disorder its degeneration of nerve cells results in uncontrollable movements, emotional disturbance, and eventually memory loss. Signs: Early onset signs of HD typically trail...
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...Huntington's disease is an adult onset progressive brain disorder that causes uncontrolled movement, emotional problems, and the loss of thinking abilities.The disease usually appears in a person’s early thirties or forties.Early signs include depression, poor coordination, irritability, and trouble learning new information. As the disease matures affected people may have trouble swallowing, speaking and walking people also experience changes in personality and reasoning people who have the adult onset form of the disease usually live for fifteen to twenty years after showing signs. The gene that is related to the disease is a mutation that occurs in the HTT gene. The HTT gene provides instructions for making the protein huntingtin which plays...
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...Huntington’s disease is a hereditary disorder that progresses throughout life and eventually causes mobility deficits, behavioral symptoms, and dementia. Huntington’s disease can begin at birth, but it mostly begins in midlife. People with this disease have a parent or both parents that are affected by this disease. A child with an affected parent has a fifty percent chance of becoming affected with Huntington’s disease. People that have Huntington’s disease that occurs before the age of twenty is called the juvenile form of Huntington’s disease. If transmission of this disease is equal from both parents, then the onset of the disease can occur at adulthood. Unfortunately, there is no cure for Huntington’s disease, but there are studies in...
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...Huntington's: The Anticipation that Kills After doing research on the effects of the disorder Huntington’s disease, it is easy to understand what a disease like Huntington’s will do to an individual way of life. Imagine being thirty years old with a good job, a loving spouse, maybe a couple of kids and an all-around pretty good life. Then imagine one day your boss writes you up and sends you home because he/she suspects you of being intoxicated. A person in this situation could, in months and years to come, learn from a simple blood test that he/she is the victim of a genetic disorder called Huntington’s disease. The ramifications of this illness are endless and affect not only the individual with the disorder but entire families and communities as well. At this time there is no cure or even any significantly effective treatment. However, as with many genetic disorders, research is being done in in this day in age that may promise to one day lead us to such treatment or cure. Huntington’s disease is a neurodegenerative or genetic disorder that affects muscle coordination and some cognitive functions, typically becoming noticeable in middle age. It is much more common in people of Western Europe descent than in those from Asia or Africa. The disease is caused by dominant mutation on either of the two copies of a specific gene, located on chromosome 4. The Huntington gene normally provides the genetic code for a protein that is also called Huntingtin. The mutation of the Huntingtin...
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...Huntington's Disease Essay: By Jasmine Mongeon Huntington's disease is an inherited disease characterized by the degeneration of the central nervous system, which ultimately results in abnormal movements and mental deterioration. The genetic abnormality consists of expansion in the trinucleotide repeat CAG in the HD gene on chromosome 4, which codes for the normal protein huntingtin. The HD gene is an autosomal dominant condition which means that only one parent must have the gene in order for a child to inherit HD. Huntington's disease results in abnormal movements and mental deterioration. Each child of an Huntington's disease parent has a 50% chance of getting the Huntington's disease. If the child does not inherit the Huntington's disease...
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...Huntington’s disorder is an inherited, degenerative disease that destroys brain cells. It primarily affects the caudate, the putamen, and further on in the disease, the cerebral cortex. It is quite uncommon, as roughly only 30 000 people who live in America display its symptoms. Individuals with this disease experience difficulty with processing emotion, and aren’t able to process movement as quickly. They also begin to forget things they once knew. This essay will include the research of this disorder from its specific symptoms, its genetics and mutation, and finally, to the treatment for this genetic disorder. There are several symptoms that are associated with Huntington's Disorder. Regarding the onset of this disorder, it most commonly occurs between ages 35-44. However, there have been cases where children do start showing these symptoms. In the early stages, things like cognitive and physical skills start becoming difficult....
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...Huntington’s disease is fatal genetic disorder that causes the gradual breakdown of nerve tissue in the brain. Day be day, a persons physical and mental brain state slowly deteriorate until they are unable to do essential body functions such as swallow and breathe. During this process, patients loose the ability to walk properly, speak and comprehend, and even eat. After symptoms of Huntington’s disease begin to take over a patients body, their life as they knew it changes significantly, as they loose their independency. Unfortunately, there is no definite cure of Huntington’s disease. It is a genetic neurological degenerative disease, meaning that it is an inherited disease that slowly dismantles the brains ability to function properly. A patient who contains the Huntington's gene has the 50% likelihood of passing it onto their offspring, therefore there are approximately 30,000 US citizens are currently suffering from the disease....
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...for this disease? Chorea is an appropriate name for this disease due to the symptoms the disease causes. People with Huntington’s chorea usually show symptoms of quick, abnormal and erratic movements especially of the arms, legs and face along with other parts. These symptoms relate to the diseases name because chorea means “dance” in the Greek Language. Therefore, chorea is in relation to the abnormal movements displayed by people who suffer from the disease. Question 2: What are the primary manifestations of juvenile Huntington’s disease? Juvenile Huntington’s disease can have a number of manifestations or symptoms that drastically impede the person’s body from functioning normally. There are...
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...Huntington’s disease is an autosomal dominant, progressive neurodegenerative disorder illness, causing problems such as hindered or jerky limb movement, loss of cognitive function (which can lead to early onset dementia) and emotional problems such as depression (Jones L., Hughes A., 2011). There are a variety of symptoms that are associated with Huntington's disease of which start off with behavioral disturbances such as moodiness, restlessness, paranoia or psychosis before progressing onto more physical changes like head turning limited to only shifting eye position, sporadic and sometimes wild jerking movements of the arms, legs, face, and other body parts as well as slow, uncontrolled movements. Over the years, the sick individual will...
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