...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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...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 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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...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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...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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...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 are...
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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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...needs. The two condition that I have chosen, each one of them I will explain the individual effects of PIES development. Factors that affect health * Physical factors; someone could be born with a health condition for example Huntington’s disease. Huntington’s disease is an inherited disease of the brain that causes damage to the certain brain cells. Huntington’s disease come into people live at different ages. Huntington’s disease is a genetic disorder. It can be passes on from parent to child. The illness can be known at very early age or late at 40. Having this illness the person life tends to be lots of changes. For example their behaviour, movement, speech, memory lost and problem with swallowing. People with Huntington’s disease can become very clumsy and this has a way of drawing attention from the general public, as people don’t understand why that person is acting the way they are. A person who has Huntington’s disease has big effect on their physical daily use. Such as their leg, arm and mouth. The person will find it hard to move part of their body and lose speech were its hard to understand them. And also they are likely to have memory lost. Socio economic factors * Education and housing Income Adult with Huntington’s disease may struggle to look after themselves because of the health condition they are in. For this they are unlikely to look after their family and unable to do the things they use to do, including work. This will have a huge impact of...
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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 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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...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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...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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...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 Disease Huntington's Disease (HD) is a dominant genetic disorder. Each child of a person who has HD has a 50% chance of inheriting the disease, and the disease does not skip a generation. HD is caused by a larger than normal CAG repeat in the Huntington gene. This larger than normal CAG repeat produces an abnormal protein that begins to kill brain cells when the person who has the gene reaches middle age. The loss of these cells causes intense symptoms and eventually death. HD was named after Dr. George Huntington. In 1872, he was the first person to document an accurate description of the symptoms and course of the disease. At the time he called it “hereditary chorea”. The Huntington gene was discovered in 1993 by the Huntington Study Group. The CAG repeats in the Huntington gene, which is located on chromosome 4, code for the protein huntingtin. The larger than normal number of CAGs in a person with HD causes the huntingtin protein to be abnormal, which leads to symptoms. Even though every cell in the body has the gene, only the cells in the brain seem to be affected. A person has two alleles for every gene. One allele is inherited from the mother and one allele is inherited from the father. If either allele of the Huntington gene has the larger than normal CAG repeat, the person will have HD. If neither allele has the larger than normal CAG repeat, the person will not have HD and will not pass it on. When a person has children, only one allele of each...
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