...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 disease is an inherited disease that causes a breakdown of certain neurons in the brain. Huntington’s disease is a neurodegenerative disorder which causes involuntary movements, emotional disturbance, and cognitive impairment. “Huntington’s disease (HD) is caused by an autosomal dominant pathogenic mutation, resulting in an expanded stretch of 36 or more glutamine residues in the N terminus of the huntingtin (HTT) protein (1)” (Weiss et al., 2012, p.1 ). People who have Huntington’s disease are born with the faulty gene; however, symptoms typically don’t appear until the person reaches middle age. Although in most cases people with HD don’t start to experience symptoms until middle age, some people may start to experience them...
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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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...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: 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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...Huntington ’s disease Ronald Banks is a white male in his early 30’s. The patient presents for symptoms of uncontrollable leg movements. Mr. Banks has had these symptoms for over two months. Family history and genetic testing has indicated Mr. Banks has Huntington’s disease. Huntington’s disease is a genetic disease passed from parent to child. If a person has the faulty gene there is a 50/50 chance the child will have it. If a person has two children one will inherit the disease. Huntington’s is inherited in autosomal dominant pattern. Meaning you only have to get the gene from one parent to get the disease. Everyone who inherits the faulty gene will eventually develop the disease. There are many body systems that are affected by the disease. Huntington’s has a profound effect on the musculoskeletal system. You lose neurons that control coordination and fluidity of movement. Muscle twitching and jerking are usually the symptoms of the disease. This is also referred to chorea, and leaves many patients unable to care for themselves. They are unable to perform daily tasks such as feeding themselves, bathing due to risk of falls, dressing, and finally walking. At the end of the disease many people are bedridden and unable to speak. Huntington’s also affects the digestive system by causing loss of muscle control it makes chewing and swallowing difficult. The esophagus becomes uncoordinated and leads to regurgitation of swallowed foods. Having problems eating also leads...
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...INTRODUCTION Many people are blessed to have lived a long, healthy life in a world full of detrimental and deadly diseases. However, not everyone can say the last years of his or her life were even remotely close to healthy. Losing someone you love and care about to natural causes is sad enough as it is. Losing someone to a disease that progressively incapacitates your mental and physical capabilities is something entirely different. An example of such a malignant disorder is Huntington’s Disease, an inherited, degenerative brain disorder that is now diagnosed in 1 out of every 10,000 Americans. Huntington’s Disease Society of America is a voluntary, non-profit health organization dedicated to facilitate the lives of those who have inherited the disease by promoting and supporting scientific and medical research in hopes of developing a treatment or cure. The purpose of this report is to inform the community about the value and importance of the HDSA’s mission and goals and the impact it will have on the victims of this destructive brain disorder. What is Huntington’s Disease? Huntington’s Disease as defined by the Huntington’s Disease Society of America is “a devastating, hereditary, degenerative brain disorder…[that] slowly diminishes the affected individual's ability to walk, talk and reason.” Essentially, the victim loses capability of all motor skills and causes involuntary muscle movements, leaving them fully dependent of another person. Involuntary muscle movements...
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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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