...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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...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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...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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...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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...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 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 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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... Chromosome Number Four The purpose of this paper is to explore the association of crisis intervention relative to nursing and genetics related to Huntington’s disease (HD). The focus will touch on several different topics associated with pre-emptive testing, pregnancy, educational barriers, strengths, signs and symptoms related to the potential of having an aneuploidy fetus. Also, the importance of time sensitive decisions during pregnancy, social support for potential results, financial resources and hardship related to testing. Additionally, the potential for impaired early on-set compromised cognitive functioning linked to Huntington’s disease. Finally, incorporating the expanded role of the professional nursing scope, practice, and ethical dilemmas associated with Huntington’s disease. Chorea a Brief History Huntington-Chorea was identified in 1872 as a rare inherited disorder secondary to “Chorea” jerky uncontrolled movements (Mandal, 2014). Chorea is Greek in origin and defined as “dancing in unison” (Merck Manual, 2015). 1872 the jerky movements were thought to be divine intervention or demon possession that required a type of exorcism to expel (Jumreornvong, 2015). Additionally, with the evolution of genetics in 1983 according to the US-Venezuela Huntington Disease Collaborative Research Project an approximate location of the gene was identified (Mandal, 2014). Likewise, in 1993 the precise gene was isolated and identified...
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...inherited condition. The disease I have chosen are cystic fibrosis which is a recessive disease and Huntington’s disease which is a dominant disease. I will assess the relationship between them both and discuss the impact on individuals of genotypes resulting in development delay of normal body functioning. Also, I will evaluate the support available for individuals with the two chosen conditions. The dominant inherited condition I have chosen is Huntington’s disease. This is a disease that damages certain nerve cells in the brain. This brain damage becomes progressively worse over time and will have an effect on movement, cognition (perception, awareness, thoughtful, judgement) along with behaviour and conduct. Early functions normally include personality changes, mood swings, fidgety moves, becoming easily irritated along with altered behaviour, despite the fact that these are generally frequently unnoticed along with due to something different....
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...Josiah Hicks Genetic (Or Not) Disorders There are many diseases and disorders in the world, they all have different causes and effects. Some of the causes may be genetic, some might be the result of the surrounding environments, and some even remain unexplained. Today, I’m going to cover some of them, I’m going to explain the causes of the disorders, the resulting effects of the disorder, and if there is a cure. Sickle cell anemia or SCD is a hereditary disorder (meaning that it is acquired through the parents) and is categorized by the most prominent effect on the body’s production and storage of the a molecule 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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...Huntington's Disease Huntington’s Disease is an inherited disease that breaks down the nerves of the brain. This disease can affect the individuals functional abilities. Most people with this disease start getting symptoms in their 30s or 40s. When this disease affects people before the age 30 it is called “ juvenile Huntington’s disease”. The causes of Huntington’s is due to a inherited defect in a single gene. Cystic Fibrosis Cystic Fibrosis is a genetic disease that causes lung infections and makes it difficult for the individual to breathe. This disease causes sticky build up of mucus in lungs, pancreas, and other organs. Cystic Fibrosis is a genetic disease, the individuals have 2 copies of defective CF gene Down's Syndrome...
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...DISEASES in the BRAIN -Locked-in Syndrome http://www.cdrex.com/ -is a condition in which a patient is aware and awake but cannot move or communicate verbally due to complete paralysis of nearly all voluntary muscles in the body except for the eyes. Total locked-in syndrome is a version of locked-in syndrome where the eyes are paralyzed as well.A rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements. -Tourette's(http://tourettecamp.com/index.php) syndrome is an inherited neurological disorder. Early onset may be during childhood, and is characterized by physical tics and verbal tics. The exact cause of Tourette's, other than genetic factors, is unknown. -Huntington's(http://huntingtonsaustralia.asn.au/)& http://www.huntingtonsociety.ca/english/content/?page=Staff%20Bio, http://www.hdsa.org/about/our-mission/what-is-hd.html Huntington's Disease: a devastating, hereditary, degenerative brain disorder for which there is, at present, no cure and only one...
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...Huntington’s Disease Huntington’s Disease is a progressive neurological disease generally genetically inherited (Frank, 2014). This disease has an occurrence in all racial groups, however there is a greater concentration in those of northern European decent. This disease is rare, however is devastating to those afflicted with this disease as well as their family members (Novac & Tibrizi, 2010). Less than a month ago a very close friend of mine revealed that his father has been officially diagnosed with Huntington’s disease and that he now feared for himself that we will eventually be diagnosed with this disease. His father started having symptoms 11 years ago, however was diagnosed 8 years ago. He also watched his grandmother suffer through Huntington’s Disease throughout his childhood. He recently became engaged and it was in my conversation with him that I thought it was too soon and he was too young that he revealed his family history with Huntington’s disease. It was his concern for his father and his own future was my motivation for searching Huntington’s Disease. I hoped to gain insight that I can share with my friend if even just to be a sounding board with a little more context. History & Symptoms of Huntington’s Disease Huntington’s Disease is named for George Huntington who wrote and shared one of the most initial detailed accounts of the symptoms of this disease. Although other individuals have ben noted as documenting various aspects of what is now...
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...Huntington’s disease is an autosomal dominant neurodegenerative condition that is currently untreatable and inevitably fatal. Associated signs and symptoms include involuntary and impaired movement (chorea and dystonia), compromised cognitive abilities and psychiatric disorders such as depression, obsessive compulsive disorder, mania and bipolar disorder (Mayo Clinic Staff, 2014). Although symptoms usually appear between the ages of 35 and 55, they can begin at any age and usually cause death within 10 to 20 years. (Nordqvist, 2014) The source of Huntington’s disease was first traced to chromosome 4 with Southern blotting techniques and then focused more precisely between 4p16.1 and 4p16.3, on the short arm, using in-situ hybridization (Wang...
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