Huntington’s Disease: Death of the Mind
Abstract
This report is on the genetic disorder known as Huntington’s Disease. Throughout this report, there will be mention of causes and effects of the disease, who is susceptible and how high the chances are of an individual being afflicted are, and the overall symptoms of the disease. Treatments along with other methods of keeping symptoms in check will also be reviewed during the report. Even one of the different forms of the disease will be briefly covered, all to further expand on how the disease works and how it can be so deadly to any individual who happens to contract the disease. In the end, several ways on how the general populous can get involved with assisting the progress of research towards a cure or better treatment for the disease will be listed.
Huntington’s Disease
Huntington’s Disease is a genetic disorder that affects the brain. The disease itself is attributed to the Huntingtin protein, which is coded for on chromosome number four. This defect is a “dominant” defect, meaning that a parent with the disease will most likely pass it onto their offspring, who will one day most likely develop the disease themselves. The defective gene on the chromosome codes for the protein “Huntingtin”, which, according to scientists, normal function is not yet known. However, it is currently linked to the development of Huntington’s Disease. The disease itself was discovered in 1872 by physician George Huntington, who then published a paper entitled “On Chorea” detailing the disease.
Cause of The Disease/Signs
The disease compromises the body at the chromosomal level, specifically the fourth of the twenty-three chromosomes, this chromosome as once stated, oversees coding for the protein Huntingtin. The defect itself causes the repetition for the protein, which usually is within the range of 17 - 20; while the defect ends up pushing the repetition to about 40 cycles. The number of repetitions can be individually tested using a genetic test. The disease carries several life-changing symptoms that deteriorate the lives of those afflicted with the disease drastically. Many of the symptoms, however, take some time to develop, and usually only become seriously life-threatening in the end stages of the disease. Some of the early signs and symptoms include depression, poor coordination, insomnia, bipolar disorder, and more. Later symptoms become more difficult to manage, as such, many individuals with Huntington’s need to be assisted with their daily activities, as they will lose the ability to work or drive, but can still upkeep their own personal hygiene and household duties; these symptoms usually begin to appear once the one afflicted reaches about the mid-stage of the disease. However, once the patient has entered the late stage of the symptoms, they lose all ability to do anything on their own and require assistance performing even the most basic of tasks. At this stage of the disease, most patients are bedridden and cannot communicate efficiently. Huntington’s Disease is also linked to many other diseases, such as Alzheimer’s, however in this case, as Alzheimer’s does not kill the patient in the end. Huntington’s once it has deteriorated enough of the brain, will end up killing the ones afflicted with the disease.
Risk Groups for Huntington's Disease
Huntington’s is a disease that can affect everyone if the gene is dominant within someone, they are susceptible to the disease. According to statistics presented by the Huntington’s Disease Society of America, “Every child with a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease”, furthermore, about 30,000 Americans have Huntington’s Disease. Because anyone can contract the disease if the gene is present in them, many of the symptoms can start early in life. For example, there exists a Juvenile Form of the disease that begins in early childhood or adolescence; those affected by the disease will usually show signs of movement problems and emotional changes. More so, they experience a plethora of other effects of the disease, such as slurring speech and the decline of their performance in school; this form of the disease usually progresses far quicker than that of the adult version, and those afflicted will only live 10-15 years after the symptoms begin. This form of HD is most likely inherited by the father of the family and occurs only in about 10% of families. Even then, many individuals who have inherited the disease could go without seeing a symptom of it until they have reached well into even their eighties, on the contrasting side, they could even start as early as two years old. This is abnormal, however, as most people with the disease will start to see symptoms somewhere between their thirties and their fifties.
Available Treatment
In the 21st century, many advances towards the understanding of Huntington’s Disease were made, however, even with the combined efforts of scientists worldwide, a cure for the disease has not yet been found. As soon as the disease is found to be present in an individual, a doctor could begin to prescribe several medications or treatments to aid in keeping the symptoms of Huntington’s in check. Most notably, several of the symptoms that have to do with mental issues, such as the frequent shifts in behavior and those that come from the involuntary movements, also known as Chorea, that most patients may experience can be controlled, but cannot be fully stopped. To take care of these two symptoms, most doctors prescribe Olanzapine or Tetrabenazine for Chorea, and for symptoms that are more mental, such as emotional problems or obsessive-compulsive tendencies, most experts recommend trying a Selective Serotonin Reuptake Inhibitor (SSRI), which is more commonly known as a type of antidepressant. Other than the drugs prescribed to those with the disease, there is not much else that can be recommended to those afflicted; however, to better deal with their declining physical condition, many experts recommend that patients maintain a balanced nutritional diet and try to get as much exercise and physical therapy as possible. Aside from the methods suggested to better cope with life while living with Huntington’s, patients will slowly deteriorate in condition, before finally succumbing to the disease later down the line.
Prevention and Solution
Huntington’s Disease is still a mystery to modern science. Many scientists and researchers are to this day struggling to find a cure for this detrimental disease. With technology slowly becoming more advanced, more and more options are being given to those with the disease, however, not everything can be treated yet. For now, many organizations are taking donations and holding events to raise money for advancement in the field of treatment for Huntington’s; the forerunner of these events being the Huntington’s Disease Society of America, which has been active since 1967. For those wondering why they should even give the topic of Huntington’s even so much as a passing glance, the amount of suffering this disease has left in its wake is astonishing. Huntington’s Disease has been a cause for a countless amount of deaths throughout history, and with the help of the general populous, scientists could be one step closer to breaking the genetic lock preventing them from finally curing this disease; anyone can help with this cause through several methods. As explained before HDSA holds many events to benefit Huntington’s research, but there are other ways to help, the most effective ways being direct donations to the research of the disease, and to just participate in surveys and studies taking place to further develop an understanding of the disease. Why you should care about the disease is obvious, but will you do something about it is a completely different question. To conclude, Huntington’s is a disease that can affect almost everyone if the conditions are met, how we handle the treatment of the disease is nowhere near as effective as it should be due to the lack of understanding of how the disease itself works. With more advancements in the field, we would be able to further develop options on how to combat the issue and ultimately be rid of it, to do that however, more and more people would need to become aware of the issue and contribute to the advancement of technology available.
References
- Huntington's Disease. (n.d.). Retrieved December 1, 2019, from https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease.
- Huntington's disease - Genetics Home Reference - NIH. (2019, November 26). Retrieved December 1, 2019, from https://ghr.nlm.nih.gov/condition/huntington-disease#.
- Huntington's Disease Information Page. (n.d.). Retrieved December 1, 2019, from https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page#disorders-r1
- Huntington's Disease Society of America. (2019). Retrieved December 3, 2019, from https://hdsa.org/
- Huntington's Disease. (2019). Retrieved December 3, 2019, from https://memory.ucsf.edu/dementia/huntington-disease
- Huntington's New South Wales. (2019). Retrieved December 2019, from https://www.huntingtonsnsw.org.au/information/hd-facts/history.
