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Huntingtons disease case study
Huntingtons disease case study
Huntingtons disease essay and references
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Huntington’s disease Huntington's disease is a genetic disease. The signs and symptoms generally develop in midlife. People with Huntington's disease at younger age usually is the more serious case, and their symptoms may progress more rapidly. Huntington is harder to find in children. There are medications that available to help finding out the signs and symptoms of Huntington's disease, but treatments cannot prevent the declining in people’s physical and mental in this situation. The signs and symptoms of Huntington's disease can vary significantly from people to people. Huntington's disease usually develops slowly, and the severity of the signs and symptoms related to the degree of loss of nerve cells. Deaths occurred between 10 to 30
These signs and symptoms may be the result of many problems, so do not underestimate Huntington's disease. If your family has a history of Huntington's disease, you can talk to your doctor about genetic testing it can help you indicate whether or not you are carry the defective gene. Decide if you need genetic testing is a personal decision. For some, the uncertainty of whether they carry genes are stressful and distracts.
The reason Huntington's disease is a hereditary disease caused by a single abnormal gene. Doctors considered a dominant disorder chromosome is because only one copy of the gene is defective, inherited from parents. If the parent has a faulty gene, the chance that their children will have disabilities is 50 percent. Because the signs and symptoms often first appear in middle age, some parents may not even know they carry the gene until they have children grow up. If the child does not inherit by the defective gene then they will not pass down the Huntington’s disease for the next
Ask about medical history and family medical history. Ask about changing any emotional or intellectual recently. If your doctor suspects Huntington's disease, then they will be able to undergo psychiatric evaluation. If you know that one of your parents has Huntington, ask your doctor about genetic testing. Genetic testing have usually done in the context of pre-test and post-test counseling support. Your doctor may also suggest computer tomography (CT), magnetic resonance imaging (MRI). The imaging tests can help doctors determine brain structure changes and the exclusion of other
The abnormal accumulation of GM2 gangliosides in the neurons of the brain and spinal cord cause the neurons to slowly die, leading to the death of the individual. Infantile Tay-Sachs symptoms do not appear in the body until 3 to 6 months of age, but the destructive process had begun early in the pregnancy, leading to the general death around the age of 4. Juvenile Tay-Sachs symptoms begin to appear around 2 to 10 years of age, but despite the milder effects of the disease the destructive aspects of the disease have been at work since early on in the pregnancy, causing death to generally occur around the age of 15. Late Onset Tay-Sachs symptoms appear between adolescence and mid 30s, but does not have an average age of death. Due to the milder symptoms of the disease some individuals life expectancy may not be affected, but cases of Late Onset Tay-Sachs
The video, “Cracking the Genetic Code,” brought for forth some great interest in knowing that the medical field and technology has advanced so much that we can know our own genetic code and if we will or develop a certain disease. But aside from the interest, the video also brought forth some heartbreaking moments for the patients in the video that have had their lives turned around due to medical illness. For example, Megan Sullivan, who was a fully functional young woman and started showing symptoms of Huntington’s disease during her college years, which reduced her functioning to where she can barely even speak for the interview. It’s hard seeing somebody that young go through those huge obstacles, or in the case of Catherine Ellton, who, in a way, was forced to speed up her life in a
In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
...xpressed in diseased neurons. Hence the increased aggregation leads to the further deterioration in UPS function. The abrupt loss of neuronal function that is characterized in the progression of many neurodegenerative diseases including huntingtons disease can be explained by this positive feedback mechanism.
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Nurse’s play a very important role in the delivery of care to an older person and in complex disease such as Parkinson’s disease, the care provided by a nurse is vital for both the patient and the family of the affected person. The aim of this essay is to understand briefly about Parkinson’s disease and associated issues and the role of the nurse in the management of the condition.
Dementia is a significant health issue in Australia (Australian Institute of Health and Welfare 2012) (AIHW 2012). Whilst Dementia primarily affects older members of the community, it can also affect young people and has a significant influence on overall health and quality of life (AIHW 2012). The type of Dementia is a determinant in the severity and development of symptoms in individuals (Department of Health 2013) (DoH, 2013). The gradual, progressive and irreversible nature of Dementia has a considerable social and physical impact not only on the individual, but also on family and friends.
Doctors need a sure way to diagnose the disease before treatment or studies can be done. The diagnosis is an autopsy of brain tissue examined under a microscope. In addition, medical history, a physical exam, and mental status tests are used for diagnosis (Posen, 1995). Often, tests are done to rule out other potential causes of the dementia. This allows the identification of other causes of thinking and behavioral changes to be made before concluding that the patient has Alzheimer’s or another form of dementia. The tests that are requested to be done include CT and MRI scans to rule out strokes or brain tumors which could account for change in memory and behavior; thyroid and psychological tests which can also detect thinking and behavior problems (Posen, 1995).
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
Several tests are done in order to determine if a patient meets these criteria, and this can be done by physicians and neurologists.... ... middle of paper ... ... Retrieved January 19, 2014, from nia.nih.gov: http://www.nia.nih.gov/alzheimers/publication/part-1-basics-healthy-brain/inside-human-brain. a.
This paper is on dementia, a late-life disorder, as it pertains to the geriatric population. “It is estimated that 24.3 million people around the world have dementia and that, with an estimated 4.6 million new cases every year, we can expect about 43 million people and their families to have to handle the challenge of dementia by 2020.” (McNamera, 2011) I will cover three relevant points concerning this disorder that cause changes in the brain.