...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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...The Huntington’s disease Author’s name University Affiliation Nancy Wexler is an American geneticist at Columbia University as the Higgins Professor of Neuropsychology. She is known for discovering the location of the gene causing Huntington’s disease. She works in the field of genetics despite earning a Ph.D. in clinical psychology. Currently, she works as the president of the Hereditary Disease Foundation clinic initiated by her father. The personal situation that motivated her to take up the study was the prevalence of Huntington’s disease in her family (Quarrell, 2008). Her grandfather, mother and three uncles died of the disease. She got prepared professionally for this task from the bright background as her father was a psychoanalyst while the mother was a geneticist. She also made up her mind to go for the gene testing hence added to her credibility. Additionally, the doctoral thesis she wrote on the emotional features of people at risk for Huntington’s disease also helped her. She contributed to the effort to produce a chromosomal test to identify carriers of the disease. Hungitin protein encoded by the Huntington’s gene plays a significant role in the neurons of the brain for development before birth. In cells, this protein is involved in transporting materials, chemical signaling, binding to proteins, and protects the cells from self-destruction. The coding area of the gene contains the DNA sequence repeated many times. People infected with Huntington disease...
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...Describe the genetic basis and inheritance pattern of Huntington’s disease, and discuss the ethical considerations of genetic testing for the disease. Huntington’s Disease is a disease that affects the brain and can involve the damage of brain cells. It is an inherited disease and the damage in brain cells could cause the deterioration or gradual loss of functions in some areas of the brain. This disease affects movement, behaviour and factors that contribute to cognition within some areas of the brain. Some early symptoms can be observed when the patient is between 35 and 55 years old, and these symptoms include changes in personality and mood. Huntington’s disease can also cause psychiatric problems, some people may develop to have obsessive behaviours and in rare cases schizophrenia. The disease is strongly associated with movement problems, in the early stages, the victim may start to show uncontrollable movements of the face and body. As Huntington’s progresses, the uncontrollable movements become more extreme and occur more frequently. Due to the loss of co-ordination, some patients struggle with eating, as it may be difficult to control their muscles that are in charge with swallowing and chocking on food and water is a risk factor....
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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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...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 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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...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 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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...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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...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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...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 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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...TITLE: Perspective: The Therapeutic Potential of Deep Brain Stimulation in Huntington's Disease AUTHORS: Sean J. Nagel, Andre G. Machado, John Gale, Darlene A. Lobel, Mayur Pandya ABSTRACT Huntington’s Disease (HD) is an incurable neurodegenerative disease characterized by the triad of chorea, cognitive dysfunction and psychiatric disturbances. Since the discovery of the HD gene in 1993, the pathogenesis has been outlined, but to date a cure has not been found. Disease modifying therapies are needed desperately to improve function, alleviate suffering, and provide hope for symptomatic patients. Deep brain stimulation (DBS), a proven therapy for managing the symptoms of some neurodegenerative movement disorders, including Parkinson’s...
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...out of every ten thousand people have Huntington’s disease, and two hundred thousand are at-risk of inheriting the disease. Huntington’s disease is a genetic disease that can effects all races, both sexes, and even juveniles. It is an autosomal dominant disorder, meaning you only need one defective gene to develop the disorder, so if one of your parents have the disease there is a fifty percent chance that you have it. Unfortunately there is currently no cure for Huntington’s disease but there are many symptoms to lead you to consider genetic testing to get a through diagnosis as well as a few treatments to help manage those symptoms. Huntington’s disease usually causes disorders with movement, cognitive, and psychiatric...
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