Huntington's Disease Huntington's Chorea Term Paper

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Huntington's disease, also known as HD, is an uncommon degenerative disorder that greatly impacts the central nervous system of the individual. It is often characterized by surplus and unneeded choreatic movements, unusual behavioral patterns, disturbances in the mental level and dementia. (Sheth 2013) As far as the Caucasian population is concerned, the Huntington's disease is prevalent in one out of ten thousand persons. The symptoms start to appear when the individual is thirty to fifty years of age. In a few cases, adolescents start to show symptoms of HD (known as JHD or Juvenile Huntington's disease) before the age of twenty by demonstrating behavioral disorders and learning difficulties at school. However, chorea is the major sign of the onset of HD that spreads to all muscles with the passage of time. The affected individual becomes severely retarded as the psychomotor processes are affected gradually. he/she also suffers decline of cognitive skills and starts experiencing mental disorder symptoms (Roos 2010).

If described in medical language, Huntington's Disease is "an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene" (Roos 2010). The symptoms begin to show as early as elongated the CAG repeat is. In adolescents that suffer from Juvenile Huntington's disease, the repeat frequently goes beyond 55. The signs and clinical symptoms lay the basis for diagnosis, especially for individuals who have a parent with confirmed Huntington's disease. The diagnosis is confirmed with the determination of DNA. Several types of diagnosis may be conducted including pre-manifest diagnosis, prenatal diagnosis and pre-implantation diagnosis. Although, there is still no cure for the mentioned disease, the quality of life of the patients can be improved with the help of care (both medical and non-medical) and other available treatments. The individual with Huntington's disease becomes completely dependent as the disease progresses and is not able to carry out even the day-to-day tasks. This situation ends up in full time care and then death. Death is most commonly caused by pneumonia seconded by successful suicidal attempts (Roos 2010).

The above chromosome map clearly shows there is a mutation in the Huntington's disease.

Causes and Risks

All Huntington's disease cases are found to be caused by the defective gene that was identified by the medical scientists in the year 1993. The huntingtin gene imperfection is consisted of an additional particular chemical code repeat in a minute part of chromosome 4. Normally, the huntingtin gene has a total of more or less twenty repetitions of this specific chemical code among the total codes that number three thousand approximately. The Huntington's disease is caused by the chromosomal defect in which there are more than forty repetitions. For the genetic tests of the Huntington's disease, these number of chemical codes repetitions that are present in the huntingtin protein gene of the patients are measured (Knowles 2007).

The actual function of the hungtin protein/gene is still not known to the scientists. They still don't know about the process due to which dozens of surplus repeats in its genetic design cause the destructive indicators of Huntington's disease. This is the reason why scientific researchers are making endeavors for the resolution of the unanswered Huntington's mysteries. Any advancement and solution would be advantageous for the getting insights of psychological disorders for instance Alzheimer's, Parkinson's disease etc. (Knowles 2007).

Symptoms

The symptoms of this disease may vary from person to person. There are cases when within the same family the symptoms differed from the other family member. In some cases, emotional and behavioral symptoms are more prominent. For others, the emotional and behavioral symptoms may be less obvious as compared to the symptoms of involuntary movements (Lemiere 2004). Following are some of the most common symptoms of Huntington's disease.

Emotional/Behavioral Symptoms

Some of the symptoms which are commonly encountered in the Huntington's disease are anxiety, irritability, depression and apathy. Some people suffer from depression for a longer period which may be months or even a year, before its recognition to be a symptom of HD. Social withdrawal, several occurrences of mood swings and impulsiveness with aggression are the behavioral changes that may show up. Existing personality traits can also get intense by Huntington's disease. There are also very less chances of schizophrenia and other psychiatric problems in Huntington's disease (Lemiere 2004).

Cognitive/Intellectual Symptoms

The very first signs of cognitive disturbance often are the slight changes in intellectual capacity. These signs may be the reduced ability to handle new situations and the organization of the routine matters as well. Long-term memory stays well but short-term memory loss is a symptom too. The daily routine work/tasks become extremely difficult to perform (Lemiere 2004).

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Motor Symptoms

Excessive restlessness, fidgeting, twitching are the nervous activities that are initial physical symptoms. There may be a change in the hand writing of the person. Routine activities like driving and cooking, which involve concentration and coordination, become difficult. Facial grimaces can appear as well. All these initial symptoms may develop with time into some involuntary movements of head and limbs. As a result, these may lead to walking problem and balance maintenance. During rest and taking sleep, movements decrease and the movement in stress or excitement may increase during voluntary effort (Lemiere 2004).

Being at Risk for Huntington's disease

Huntington's disease has different effects on different people so there is no particular condition/situation that makes a person vulnerable to get affected by Huntington's disease. There are a majority of people who do not wish to have discussions regarding their status of being at risk for HD. Some people get so allergic of the topic that they even turn away from their family members. On the other hand, there are a number of people who do nothing but constantly think about being at risk to HD and fear about the development of the Huntington's disease. Such influences can prove to be dangerous and may lead to menacing and self-destructive behavior. However, there are other groups of people who have the ability to think of and adopt a balanced approach regarding their at-risk status. They also make good decisions for themselves through this positive approach about their conditions (Weiner & Lipton 2003).

This is important to note here that being susceptible to Huntington's disease is rather influential for people as it has a major effect on the choices in life including marriage, family planning and job opportunities. In addition, this vulnerability to the mentioned disease may influence the daily routine of people in insidious manners. An occurrence of awkward situation, shuddering or absentmindedness/lack of memory may be regarded as an onset of the Huntington's disease that may have terrifying consequences for the individual and his/her family. A good number of at-risk people show enough bravery to acknowledge the vagueness of being at risk for Huntington's disease. This is significantly observable when there is no availability of an effective treatment. Without a doubt, as there is no cure available for the disease, people choose to continue living and do not opt for taking tests (Weiner & Lipton 2003). Currently, there is one in every ten thousand individuals in United States of America who is suffering from Huntington's disease. Those who are at risk to have inherited HD from a parent number more than 2.5 million. As already mentioned, the symptoms start appearing between the age of 30-50 and the disease becomes worse over a period of ten to twenty-five years. It is important to mention here that both genders are equally affected by this mental impairment disease. According to the worldwide statistics, estimations reveal that 5-10 people out of every 100,000 people will suffer from HD. Every ethnic background is vulnerable to get the disease. Children who have a parent with HD have a 50/50 chance to be at risk of inheriting it. The occurrence of the Huntington's disease has been observed all over the world. However, there are a number of territorial groups in which Huntington's disease is uncommonly found.

Diagnosis

Only a comprehensive and detailed examination of Huntington's disease can make sure the completion of an accurate clinical diagnosis. The examinations to diagnose Huntington's disease consist of numerous neurological and psychological exams. Family history is also checked in detail. In some cases, diagnosis also involves MRI (magnetic response imaging)/CT scans (computerized tomography). However, the findings from such processes do not provide enough information with the help of which a proper diagnosis may be formed. In the similar manner, Huntington's disease may also be diagnosed by conducting the genetic test of the individual, the results of which may help in the confirmation, ruling out or identification of Huntington's disease development (DiMaio, Fox & Mahoney 2010).

It is extremely important to mention here that if the HD gene is identified after a positive test result, this finding may not be helpful for the confirmation of HD diagnosis without a neurological examination. This is the reason why it is excessively significant to get checked up by a neurologist who….....

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