ACOM 117 Information and Analysis of Huntingtons Disease Assessment Answer
The purpose of the report is finding out information and analysing the Huntington’s disease affecting people. It is an inherited, progressive and incurable disease caused by the presence of a faulty gene. The symptoms are various and develop with time. The diagnosis of the disease is easy, but not the treatment. No such proper treatment process is available. Therefore, extensive research and development are necessary for inventing an actual treatment procedure for HD.
The aim of the paper is researching Huntington’s disease that affects people commonly. After completing the report, there is a significant scope on gaining valuable knowledge on the condition, its clinical manifestation and possible treatment that can be applied for treating people with this disorder. The size of the report is limited to 1000 words. Therefore, an in-depth analysis cannot be carried out.
Findings and discussion
History of Huntington’s disease
Huntington’s disease or HD is a neurodegenerative hereditary condition, which affects perception and movement and is fatal and progressive. Previously, it had different names; in 1872, it got its eponym after the demonstration of a full description of the medical appearance of HD by George Huntington. Although, it was known as Huntington's chorea for around a century, now, it is more precisely considered as HD, as chorea is neither a persistent nor a specifically prevailing characteristic of the disease (Kuan et al. 2015). Bhattacharyya (2016) stated that it is an autosomal main disease, which shows full penetrance, so that all people, who are carrying the malfunctioning genetic factor, will patent the disease. The highest number of closely linked pretentious patients comes from inter-connected families belong to Lake Maracaibo in Venezuela. In 1993, the Huntington protein was insulated. HD possesses a distinctive position in the ground of medical genetics, as it has contributed to the indulgence of gene significantly.
Aetiology of Huntington’s disease
HD is the consequence of mainly mhTT, a defective gene on chromosome number 4. A typical counterfeit of the inheritable factor forms Huntington, a protein. This gene is more significant than it needs to be. It results in extreme construction of CAG (cytosine, adenine and guanine). These are the basis of the DNA. Usually, CAG reiterates 10-35 times. However, In HD, it recurrences 36-120 times. If it recalls more or equal to 40 times, signs are expected. This change leads to a more significant type of Huntington. It is poisonous, and as it gathers in the mind, it damages the cells in brain. Some cells of the brain are delicate to the more significant types of Huntington, mainly those linked to thinking, memory and movement. It weakens their activities and finally damages them. Experts are unaware of the way it happens (Carroll et al. 2015).
HD is called autosomal prevailing disorder, which means that just one duplication of the defective gene, congenital either the father or the mother and is compulsory to form the disease. An individual having the genetic material has a noble and a faulty replica of it. Any progeny will receive either the defective or the good one. The baby inheriting the defective counterfeit will develop HD.
Clinical manifestations of the disease
HD can take place take place within all ethnic group of people; however, it has a greater incidence in North America, Australia, Asia and Europe. It contains abnormal, behaviour, cognitive and mechanical features; symptoms usually start slowly and develop over the disease course. Most of the patients may get dementia but can give cerebral changes before the course of the disorder. They may experience depression, irritability anxiety, suicidal ideation, obsessive-compulsive disease and psychosis (McColgan and Tabrizi, 2018). Motor symptoms comprise of instinctive and irregular body actions and muscle bumps and deficiency of intended action. Suffers may show motor tenacity like the inability of maintaining tongue lump or keeping their eyes shut. Later within the course, patients can have a decrease in selection with growing parkinsonian characteristics. As opposed to the adult type, the juvenile type contains bradykinesia and rigidity and can be completed by appropriations. People may experience dysarthria, walk disturbance, weight loss and may develop different neuroendocrine abnormalities and type 2 diabetes (Nold, 2017).
A variety of potential treatment for the disorder
In the words of McColgan & Tabrizi (2018), although, no well-known treatment for delaying the foresee or beginning the development of HD, treatment of chorea considering the neurochemical pathology known can be beneficial in some people, as it can have a positive impact on motor function, safety and quality of life.
The treatment variety of HD is medication, exercise, speech therapy, and so no. Medication can facilitate controlling twitchy movements. The doctors can work with the patient closely for managing side effects and changing medicines if the requirement occurs. Speech therapy can have a positive impact on the patients facing problem in swallowing or speaking. Physical therapy can support learning on movement controlling. Assistive devices lie handrails are essential patents managing their fluctuating physical abilities. Nutritional support includes using a particular appliance for emphasising on nutrient-rich foods for complementing with tube serving in future stages. Exercise can be beneficial for people having HD, as it helps them staying active and fit, as they desire to compare to those who do not exercise (Wyant et al. 2017).
Future issues and new developments
HD is a progressive, inherited, and incurable disorder and active disease-modifying treatments and cures are not present. The existing therapeutics are just symptomatic and do not change the disease course. Thus, it is also problematic for the effective treatment of HD in the future (Potkin & Potkin, 2018). Apart from that, Jimenez-Sanchez et al. (2017) stated that although, HD can be diagnosed easily with genetic testing, however, developing an effective cure for the disease is not that simple. Tetrabenazine is the only drug that is approved as a treatment procedure for the disorder. However, it only targets the movement problems of the disease.
Beset therapeutics for HD by a complete understanding of HD pathophysiology are continuously developing. Integrated with biomarkers, which anticipate illness stage and development, approved treatment for the cognitive, psychiatric and motor symptoms are projected. The most favourable drugs are those, which target the formation of the mHtt protein and its essential role in HD pathophysiology (Potkin & Potkin, 2018).
HD is an inherited disease that progress with time. The disorders can be easily identified through genetic testing. However, limited treatment processes are available there that are effective to cure it. Hence, the focus is put on the future development of an effective treatment procedure.
As no effective treatment method is there, the focus must be put on research and development of the different medication and treatment processes. It is needed to found some active technique for curing the disorder altogether.