Huntington’s disease: Etiology and Symptoms, Diagnosis and Treatment Essay

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According to Knowles (2007), Huntington’s disease can be described as a disorder that results in continuous degeneration of the nerve cells found in the human brain. The disease has several effects on an individual’s functional capacities including reasoning, psychiatric and movement impairments. Both men and women can get affected by the disease. Generally, the symptoms of Huntington’s disease become noticeable in an infected person in middle age.

According to reports, the symptoms can show up in different ways amongst patients. However, most of the symptoms are normally predictable. During the initial stages of the disease, an infected person can show minor intellectual complications or slight mood changes. As the disease progresses, unsynchronized, irregular movements of the body become more noticeable. In addition, the conceptual thinking of an individual deteriorates.

Huntington’s disease develops when an individual has a defective gene found in the fourth chromosome. A protein molecule called huntingtin is generated by both the defective gene and a regular copy of the gene. However, the defective gene, due to its larger size, generates bigger forms of the protein. Large forms of huntingtin weaken the functioning of some brain cells. Finally, these cells get destroyed by the proteins. Consequently, both psychological and physical impairments develop in the infected people.

Huntington’s disease can be passed to children. Actually, an infected person generally inherits a replica of the genetic factor with an extended trinucleotide recurrence from an infected parent. The gene modification is so high that an individual with the altered replica will certainly get infected. According to the research, every child of an infected person has a 50 per cent probability of getting the mutated gene and thus being infected by the disease (Lawrence, 2009).

A child can inherit Huntington’s disease independent of the gender. There are also rare instances when both parents of the child possess the mutated gene. In such cases, the risk of infection of the child rises to 75 per cent. Again, when both parents have two mutated genes, the chances of infection become 100%. However, such cases are very rare.

Huntington’s disease is incurable. There are medicines that are helpful in the management of the disease symptoms. However, these treatments cannot avert the physical, psychological and interactive degeneration related to the disease. Even though there are lots of researches still being carried out, there is no treatment that can stop the development of Huntington’s disease (Visser, 2010).

Little research has been conducted to find out the benefits of exercises and psychotherapies that assist in restoring some symptoms of Huntington’s disease. Nevertheless, there are some indications that these therapies are actually effective. Some of the most common types of therapies are physical, occupational and speech therapy.

Mostly, life expectancy of an individual with Huntington’s disease is approximately 20 years from the onset of noticeable signs. However, the most fatal problems are caused by poor muscular co-ordination and social changes brought by a deteriorating mental function. Therefore, chances of survival depend on these factors.

One of the major life-threatening complications is pneumonia. Since the ability to co-ordinate body movements decreases, the patient may have complications in clearing of the lungs. This can increase the chances of pneumonia infection. Heart disease and different kinds of injuries, as well as pneumonia, reduce the life expectancy of an infected person.

References

Knowles, J. (2007). Huntington’s disease. New York: Rosen Pub. Group.

Lawrence, D. M. (2009). Huntington’s disease. New York: Chelsea House.

Visser, T. J. (2010). Huntington’s disease: Etiology and symptoms, diagnosis and treatment. New York: Nova Science Publishers.

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