...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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...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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...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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...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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...GENETIC COUNSELING IN NURSING AND ETHICS Hyang Ko Azusa Pacific University Abstract The current development of genetic information and technique leaves us assignments. It is included ethical issues, roles of nurses, and the responsibilities in healthcare professionals. In order to understand nurses’ role and responsibilities and to provide genetic counseling, two research article with text books were reviewed. There were conflicts within ethical principles and nurses’ obligation. Each principle is important but one principle is superior to others when healthcare professionals make a decision in a certain context. It is necessary that genetic counseling is provided to patients and their family when healthcare professionals deal with genetic information. The two research articles empathized that experienced nurses are excellent candidates in genetic counseling within healthcare professionals by being educated, trained about genetic information. Genetic Counseling in Nursing and Ethics Definitions of Genetics and Genetic Counseling Officially, the terms of Genetics and genetic counseling is defined by Wekipidia as below: Genetics, a discipline of biology, is the science of genes, heredity, and variation in living organisms (http://en.wikipedia.org/wiki/Genetics). Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting...
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...Huntington’s Disease Huntington’s Disease (HD) is a neurological condition characterized by uncontrolled movements, psychological and emotional problems, and decreased cognition. This disease affects 3-7 per 100,000 people of European ancestry, although people of other ancestries, such as African and Asian descent, are less affected. (3). Due to the nature and symptoms of the disease, various treatment plans can be enacted to help with everyday managing of the disease effects, along with new research that also helps shed light on the root causes. Signs and Symptoms Patients present with a variety of symptoms related to the malfunctioning of various neurons in the central nervous system. Onset of symptoms usually begin with patients complaining of clumsiness, tremor, “balance trouble”, or jerkiness. These movements, which develop into Huntington’s Chorea, is characterized by continuous, jerky, irregular, and writhing limb movements, which also can affect the trunk. Other areas also affected include the respiratory system, larynx, pharynx, and oral cavity. Along with spontaneous movements, voluntary actions are usually impaired, slow, and uncontrolled. (1) (2). Symptoms can also begin with cognitive impairments. Cognitive speed and efficiency tends to lessen, and over time, dementia will become more global. Behavioral changes include irritability, hallucinations, moodiness, paranoia, and psychosis. As dementia sets in, disorientation, loss of judgment and memory, and personality...
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...According to The Huntington's Disease Society of America Huntington's disease is an inherited disorder that results in the progressive loss of both mental facilities and physical control. The symptoms of Huntington's disease can range anywhere from behavioral issues such as mood swings or a total change of personality to loss of coordination or even trouble swallowing. “Huntington's disease is caused by inheriting a mutation in The HTT gene” (Genetics Home Reference). At this point in time there is no cure for Huntington's but there has been some progress in slowing down the disease. “People who are diagnosed with Huntington's disease don’t usually have any signs or symptoms until they are between the ages of thirty to fifty” (HDSA.org). In some very rare cases the symptoms can start in childhood. This type of the disease progresses much faster and the teenager or child who gets it usually only lives ten to fifteen years after being diagnosed. “In the early stages of Huntington's the most common symptoms are poor memory, depression, lack of coordination, and...
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