...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...
Words: 777 - Pages: 4
...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....
Words: 497 - Pages: 2
...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...
Words: 971 - Pages: 4
...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...
Words: 2171 - Pages: 9
...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...
Words: 2274 - Pages: 10
...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...
Words: 1866 - Pages: 8
...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...
Words: 1207 - Pages: 5
...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...
Words: 802 - Pages: 4
...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...
Words: 3175 - Pages: 13
...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...
Words: 5756 - Pages: 24
...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...
Words: 1294 - Pages: 6
...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...
Words: 355 - Pages: 2
...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....
Words: 644 - Pages: 3
...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...
Words: 1347 - Pages: 6
...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...
Words: 727 - Pages: 3
