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Huntington's Disease: Causes, Typical Symptoms and Signs, Treatment

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Huntington’s disease is a genetic disease that causes progressive damage to cells in the basal ganglia and cerebral cortex which are both found in the brain. These areas control movement and the way one thinks, understands and remembers. The disease was characterized by George Huntington in 1872. People with Huntington’s disease generally develop symptoms between the ages of 30 and 50. These symptoms include:

  1. Cognitive: amnesia, delusion, lack of concentration, memory loss, mental confusion, difficulty thinking and understanding.
  2. Muscular: abnormality walking, increased muscle activity, involuntary movements, problems with coordination.
  3. Behavioural: compulsive behaviour, fidgeting, irritability, lack of restraint.
  4. Psychological: delirium, depression, hallucination, paranoia.
  5. Mood: anxiety, apathy, mood swings.

Huntington’s disease is caused by an inherited defect in a single gene. The disease is an autosomal dominant disorder, which means that the affected person only needs one copy of the defective gene to develop the disorder. Huntington’s disease is caused by the number of CAG repeats in the Huntingtin gene. If there are 10-35 CAG repeats, the individual does not have Huntington’s disease, whereas if the individual has 36-40+ CAG repeats, the individual will develop Huntington’s disease.

If one does have Huntington’s disease, these are some services that can be contacted: Huntington’s VIC/NSW/QLD, Brain Foundation, Huntington’s Disease Youth Organization, International Huntington Association.

There is currently no treatment for Huntington’s disease, however there are medications available and lifestyle changes that can help delay the onset of the disease and the progression of symptoms.

In December 2017, Ionis pharmaceuticals made a major breakthrough in protein altering technology. Huntington’s disease occurs through the mutation of the DNA sequence, this sequence is then transcribed by the RNA in order to form faulty proteins which cause the disease. These scientists have developed a technology called antisense oligonucleotides or ASOs. These ASOs are custom built, chemically modified sections of DNA that can freely enter cells. Once inside the cell they locate and then destroy the specific piece of RNA that instructs the cells to make the Huntingtin protein. The drug has been cleared that is safe and has no side effects, however the trial conducted was over a period of four months, so it is unknown whether the drug has made the symptoms better. For this technology to come onto the market, a full clinical trial will have to be carried out on individuals with Huntington’s syndrome over the course of their lifetime. Although there is no current cure for Huntington’s disease, new technologies are being developed which makes the future look promising for those with the disease.

While these technologies are being developed, there are systems in place to delay the progression of symptoms. As keeping fit is scientifically proven to help the brain stay healthy, keeping fit is recommended to those with HD. Also, living a healthy lifestyle such as eating and sleeping well as well as being outdoors has shown to keep the brain healthier. Doing puzzles such as Sudoku can exercise the brain and in doing so, keep it healthy and active. As one may experience anxiety and depression when dealing with HD, a specialist doctor may prescribe some anti-depressant medication.

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As the symptoms of an individual with Huntington’s disease slowly become more progressive, the individual may go into palliative care. This means the person goes into care to optimise their quality of life before they eventually pass away. Services of palliative care differ to suit a patient’s needs; however, some services include:

  • Administration of medication to ease symptoms.
  • Counselling and grief support
  • Support for people to meet cultural obligations
  • Support for emotional, spiritual, social concerns
  • Links to other services such as home help and financial support
  • Assistance for families to talk about sensitive issues
  • Resources to aid care at home

This care is necessary to make sure that the times in which families and individuals are most vulnerable can be time spent with their loved ones, and that the quality of life for the person with the disease can be the best it can. In my opinion, there should be more government funding into palliative care, because it is not only expensive but because people are busy grieving over their loved one and should not be worrying about how much the care costs. Palliative Care Victoria is a not for profit organization that provides the services listed above. Although they have $72 million in the budget, it is still not enough to provide the services they should be providing. Their priorities should be to the patients, not to the money they need to ration in order to keep the organization running.

Genetic screening is a type of medical test that identifies changes in chromosomes, genes or proteins. It is used to determine whether a person will develop or is the carrier for a genetic disorder. When screening for Huntington’s disease, doctors look for the number of CAG repeats on the Huntingtin gene. The number of CAG repeats a person has will determine whether they are gene positive or gene negative. Genetic screening for Huntington’s disease must occur when the individual is 18 years or older. They must also want to know if they have Huntington’s disease. The age is 18 so that the person may choose for themselves if they want to know their gene status, rather than having a parent choose for them and then the individual getting told without wanting to know. In fact, 85% of people at risk choose not to be screened. This, however, poses multiple ethical problems, as a child of a parent with Huntington’s disorder has a 50% of inheriting the disorder. By having a child, the parents place their child 50% at risk, however if they don’t, they can look to adopt a child. However, this child will be forced to bear the burden of caring for its parents and bear the emotional stress of having a loved one pass away. By process of adoption, the Huntington’s disorder can be fully eradicated however many individuals with the disease want to have children. If one is screened for Huntington’s disease and are found gene positive, they can then make an informed decision about whether to have a child, adopt or not have a child at all. If the parents do choose to adopt, they will eliminate the allele out of the family line and in doing so save their family from the chance of getting the disorder.

For one person who has Huntington’s disease, to pay for the treatment’s and support for this person costs around $40,500. Over 65% of this cost is for palliative care once the symptoms get progressively worse. In Australia during 2016-17, the Australian government spent $9.1 on mental health-related services. This was roughly $375 per person. 7.4% of government health expenditure was spent on mental health-related services. Although $9.1 billion sounds like a lot of money, 1 in 5 people experience mental illness every year, on top of the people who constantly live with a mental illness. Overall, more funding needs to be invested in genetic mental illness such as Huntington’s disease.

Referring to the map, it is shown that Western Countries such as the U.S, Australia and England as well as parts of Europe and Canada are the most prevalent, as they have 5 or less people with HD. In the Middle East and Asia, it is less prevalent with only 0.5 to 0.1 people having the disorder. If the number of people with HD is unknown, it shows that there must not be many people with HD to make it a concern. As mainly Western countries are prevalent with HD, it means they are going to be more technologically advanced and have greater funding into the disease whereas countries that are less prevalent for the disease are less likely to fund research into something that is not a concern. This is fine, however people with HD in countries where it is not prevalent are more likely to have to spend more on treatment as it is not available in their country. This raises ethical debates around who needs the technology more and why some countries should have access to the technology while others shouldn’t.

Although an individual with Huntington’s disease will try and live as quality a life as possible, sometimes the symptoms become so severe that Euthanasia is an option that may be open to people whose symptoms of HD have progressed to the point where it is better they end the pain rather than live through it. Euthanasia, however, is only legal in five countries: Netherlands, Belgium, Colombia, Luxemburg and Canada. This means that people who do have HD need ongoing counselling as suicidal thoughts are common once they reach the later stages of the condition.

Bibliography

  1. Huntington’s disease | Health Information | Bupa UK 2017, Bupa.co.uk.
  2. Huntington’s disease – Symptoms and causes 2018, Mayo Clinic.
  3. Fritz, NE, Rao, AK, Kegelmeyer, D, Kloos, A, Busse, M, Hartel, L, Carrier, J & Quinn, L 2017, ‘Physical Therapy and Exercise Interventions in Huntington’s Disease: A Mixed Methods Systematic Review’, Journal of Huntington’s Disease, vol. 6, no. 3, pp. 217–235.
  4. Huntingtons 2019, Huntingtons.
  5. Hdbuzz.net. (2017). Success! ASO drug reduces levels of mutant protein in Huntington’s disease patients – HDBuzz – Huntington’s disease research news. [online] Available at: https://en.hdbuzz.net/249 [Accessed 11 Nov. 2019].
  6. What is Palliative Care? – Palliative Care 2016, Palliative Care.
  7. Genetics Home Reference 2018, What is genetic testing?, Genetics Home Reference.
  8. Australian Institute of Health and Welfare. (2019).
  9. Mental health services in Australia, Expenditure on mental health-related services – Australian Institute of Health and Welfare. [online] Available at: https://www.aihw.gov.au/reports/mental-health-services/mental-health-services-in-australia/report-contents/expenditure-on-mental-health-related-services.

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Huntington’s Disease: Causes, Typical Symptoms and Signs, Treatment. (2022, August 25). Edubirdie. Retrieved December 7, 2022, from https://edubirdie.com/examples/huntingtons-disease-causes-typical-symptoms-and-signs-treatment/
“Huntington’s Disease: Causes, Typical Symptoms and Signs, Treatment.” Edubirdie, 25 Aug. 2022, edubirdie.com/examples/huntingtons-disease-causes-typical-symptoms-and-signs-treatment/
Huntington’s Disease: Causes, Typical Symptoms and Signs, Treatment. [online]. Available at: <https://edubirdie.com/examples/huntingtons-disease-causes-typical-symptoms-and-signs-treatment/> [Accessed 7 Dec. 2022].
Huntington’s Disease: Causes, Typical Symptoms and Signs, Treatment [Internet]. Edubirdie. 2022 Aug 25 [cited 2022 Dec 7]. Available from: https://edubirdie.com/examples/huntingtons-disease-causes-typical-symptoms-and-signs-treatment/
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