...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 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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...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 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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...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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...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 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: 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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...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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...Professor 07/26/2015 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...
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...Overview of Dementia: How It Has Touched My Life Dementia is an illness that occurs when there is a loss of brain function as a result of the presence of certain diseases. Dementia affects a person’s memory, judgment, behavior, thinking, and language. Dementia includes Alzheimer’s disease (AD) and tends to increase the most from the age of 65. Various references and literature in reference to dementia indicate that the number of patients with dementia will increase significantly as society ages, especially within the next three decades. Dementia causes significant family issues and can become a financial burden on patients and their family members. These burdens impair the ability of a person to function independently and also have a tremendous impact on his or her relationships and quality of life. The subject of this paper will discuss an overview of dementia, treatments of dementia, how it affects human lives, and also the affect dementia has had on the life of the writer of this paper An Overview of Dementia: How It Has Touched My Life As a child growing up in the early 1970s, the writer of this paper can recall his neighborhood. It was peaceful and had a several people who were known elderly and considered as senior citizens. The writer of this paper also remembers when the adults of the neighborhood would speak of the elderly and tend to talk the most about their strange behaviors. Although this was often the case, the talk of the elderly...
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...information in the annotated bibliography, the paper will be on human gene editing. It will be focusing on the ethical and legal aspects of human gene editing. She is going to argue that people shouldn’t be able to participate in gene editing. 2. In the sources, there are several summaries about the CRISPR technique used in human gene editing, but it is flawed and not a technique that is completely reliable yet in modern medicine. She addresses that she will be addressing legal and ethical aspects of the gene editing controversies. She also included several points about using credible scientist that focus on this section in biology, and using their knowledge and facts to justify why individuals should not practice human gene editing...
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...National Institute Health accomplished mapping of 32,000 genes of the human genome. Gene mapping was a significant research that enabled researchers to focus on gene specific diseases and birth defects. More than 1000 research projects started inward voyage discovery of human kind rather outward exploration of the planets. Clinical research involving human beings have greater potential for risk of misusing the technology. Potential for misusing the genetic research and fear of unknown long term effects on the successive generations have sparked bioethics debates. Like abortion, gene mapping is a very controversial subject and both sides have strong views. For example, should a woman abort the pregnancy based on the abnormal genetic screening results? Genetic technology provides an enormous power within our grips and with this enormous power comes following the ethical standards. Ethical standards should be followed involving human subjects. Genetic screening standards should align with four ethical principles of: • Respect for the human autonomy, dignity, and obtaining informed consent • Genetic screening should cause the minimal amount of harm to the subject • Provides maximum benefit to the subject • Genetic screening should be available to all the patients of a certain population considered high risk for a certain disease or condition Purpose of this paper is to discuss the correlation between genetic screening, four ethical principles, and possibility of integrating ethical...
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