In one to three percent of Huntingtons Disease patients, have no family history of HD (HuntingtonsDisease1). Huntington’s disease is a very inconvenient and frustrating disease, scientists are trying to create treatments and a cure for Huntington’s disease. The one problem with finding a cure is the lack of funding, with your help though, there is hope. HD dose not have a cure, but knowing what it is, the history, current treatment, may help scientists find a cure and provide more funding for research.
“The word chorea comes to us from the Greek, by way of Latin means Dance” (HuntingtonsDisease 1). Chorea describes the out of control movements that Huntington’s disease causes. These muscle spasms sometimes lead to seizures. This is an effect of Huntingtons disease, also known as Chorea or HD. “The Disorder was named after George Huntington who, based on the observation of patients from his fathers practice in Long Island published in 1872, at the medical and surgical reporter, a detailed description of the disease and symptoms”( Rego A.Christinade Almita, Luis Pereira1).
George Huntington is one of the most well known contributors to the Research of HD. He gave it the name, and also did a lot of research into it. “During that same year (1972) Thomas L. Perry Discovered lower levels of GABA in the brains of HD patients. GABA is the hormone that regulates levels of dopamine in the brain. Dopamine is the chemical in the brain that controls movement, balance, and walking”( Knowles pg 13).
This is known to be the cause of the unusual movements caused by HD; however, this is an effect of HD not the cause. Actually this is an affect of HD. “Huntington’s disease was both concisely and succinctly described as a specific disease entity in 1872 by George Huntington” (HuntingtonsDisease 1). George Huntington decided he was going to publish his finding to classify it as a disease. “Several reports before 1872 describe movement that later authors attribute to HD”(HuntingtonsDisease History1).
Before 1872 HD existed but no one really knew that all of the symptoms were connected until 1872 when it was classified as a disease. Before 1872 it was most likely only classified as chorea. “Before the 19th century, some HD sufferers may have been thought to be possessed by spirits or witches” (HuntingtonsDisease 2). HD caused uncontrollable things that may have been, to the church or other paranormal people, as behavior that classifies them as possessed by them devil, a spirit a witch or some other sort of entity.
Never-the-less it was classified as HD in 1872 by none other than George Huntington. “Research into the disorder continued steadily into the 20th century, researching a major breakthrough in 1983 when the US-Venezuela Huntington’s Disease Collaborative Research Project discovered the approximate location of a casual gene”( HuntingtonsDiseasehistory1) The team in Venezuela made a huge breakthrough happened, they found the root of the disease, making new treatment possible to correct some of the effects, but HD cannot be altered still, or cured.
Instead there is treatment options that will help lessen the effects of HD. “Neurologists, psychologists, psychiatrists, and other scientists continue to study the symptoms and progression of HD in patients. They hope that by learning all the can they will be able to develop new therapies”(Knowles, pg 15). These therapies will help patients both physically and mentally, but it will not better the disease or cure it. The patient will eventually die of the disease; instead they help the patient hold on for as long as possible, normally 15-25 years.
“It is extremely important for people with HD to maintain physical fitness as much as possible , as individuals who exercise and keep active act better than those who don’t”( HuntingtonsDisease1). The patient need to maintain physical fitness with this disease because HD shuts multiple organ system so that one day the patient may have a stroke or maybe a heart attack. “A physical therapist can teach you appropriate and safe exercises that enhance strength, flexibility, balance and coordination”( HuntingtonsDisease1). Safe exercises not only help ease the pain of the progression of the disease, but do not put the patient in danger.
These exercises are usually walking around or lifting, but not heavy things, just everyday items. “During pregnancy a woman can find out if the baby will have the disease with 2 test: taking a sample of fluid from around the fetus, or by taking a sample of fetal cells from the placenta”( HuntingtonsDisease1). A woman can choose to have these tests done or not, but the earlier they know is the better so that when symptoms come about they know what it is, and can treat it right away instead of letting it get out of control.
When the baby is born, there can still be tests done to determine if the disease is present, usually a bunch of brains tests and mental tests. “No treatment can alter the course of Huntington’s disease”( HuntingtonsDisease2). The medications on slow down the disease and help with the pain and the symptoms, you cannot alter or cure it. The patient will die of the disease despite the medications. Support groups for families are available so that they do not have to go through the pain and suffering alone, they have people to talk to and help them get through it.
Never the less, further into the disease this patient will need more and more assistance, also will need supervision on everyday tasks, even in some case 24-hour care. When the disease gets worse there person may need a feeding tube or artificial food in some cases. “There is no known cure for Huntington’s disease and there is no know way to stop the disease from getting worse”( HuntingtonsDisease1) Theres no way to stop HD but the meds will slow it down, however it will still get worse, instead, the medications will help patients hold out longer and longer.
“ Genetic tests are available to determine weather a person carries the gene for Huntington’s Disease”( HuntingtonsDisease 2). The gene for Huntington’s is in people who even have no family history of it, for both the non carriers and carrier, there is a test to determine weather a patient will have it or not “Although much is known about the gene that causes HD, little is know about how the presence of the gene causes the disease”( HuntingtonsDisease 1). This means that is the presence of the gene may not be linked to the cause of the disease, instead they just know what the gene is.
“The disease can be diagnosed by a blood test to detect the abnormal gene known as Huntingtin”( HuntingtonsDisease 2) The gene Huntingtin is what causes the disease and a blood test can be done on the patient to determine if she/he has it. If the patient has family history of HD and begins to show symptoms of HD and cannot be other diseases then most likely that person has HD. Knowing what it is greatly helps and informs people on awareness and likelihood of getting it. “Early onset often results in a somewhat different presentation of symptoms and faster disease progression”(HuntingtonsDisease2).
This means that if the patient is diagnosed with the disease when they are under the age of ten then the patient will most like have accelerated symptoms and progression and will most likely die before age 25. “Huntingtons Disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing” This means that when the patient get to this stage, he or she may need a feeding tube to feed them because they will not be able to chew or swallow food. “The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability.
”(HuntingtonsDisease2). The patient will not be able to move or even feel emotions once the patient is in this stage. “Individuals with the disease may range from approximately 25 years or more. ”(HuntingtonsDisease2). This disease will most likely last a expansive period of time before the patient dies. The disease lasts 25 years at the minimum. The Huntingtons gene has a non-normal repeat of codes and instructions consisting of the base pairs of DNA witch are Cytosine, Adenine, Thymine, and Guanine.
This is part of what make it a genetic disease because it is coded into the DNA of a person. “Huntingtons disease is transmitted as n Autosomal dominant trait”(Huntingtons Disease 1). This is further evidence that it’s a genetic disease because this is a genetic trait that is dominant so that a person has a more likely chance of getting it than not. “Huntingtons disease is an inherited disease that causes the progressive breakdown of nerve cells in the brain”(HuntingtonsDisease1).
This means that the disease will rot the patients brain out of nerve cells until the patient cannot think and hear, cant do anything and eventually die. “Huntingtons disease causes disability that gets worse over time. Persons with this disease usually die within 15-20 yrs. ”(HuntingtonsDisease2). This disease gets even worse when the patient has lived with it long enough by killing them. “ Huntingtons disease is a disorder passed down through families which nerve cells in certain parts of the brain waste away, or degenerate”(HuntintonsDisease3).
When a patient gets the disease it is most likely that they got it from a family member through genetics. The disease attacks the brain like rust on metal, slowly but surely, it kills the brains cells and degenerates eventually over time. “The disease mainly affects the brains and the spinal cord and abnormal brain cells are mainly found in the areas deep down in the brain that controls movement”(HuntingtonsDisease1). The disease is inside the brain, but it expands out of the brain eventually and into the spinal cord.
“Huntingtons disease is the most prevalent polyglutamine disease” (Rego A. Christinade Almeda, Luis Pereira 1). This means that this is one of the most common diseases that are genetic and with a certain chemical, meaning this is a common disease. “ By gene stands the huntintin gene is quite long with more that 300,000 nucleotide base pairs”(Knowles22). In conclusion is say that we need more funding for a cure and more treatment for this disease. Thousands of people struggle with this disease everyday and sometimes this is hard to ignore.
If someone thinks about it, if doctors made a cure then that would saves thousands maybe even tens of thousands of lives a day. HD dose not have a cure, but knowing what it is, the history, current treatment, may help scientists find a cure and provide more funding for research.
Work Cited Knowles, Johanna. “Huntingtons Disease. ” New york: Rosen Publication group, Inc. 2007. Print. “Huntingtons Disease Information” National Institute of Neurological disorders and stroke N. P. August 13th, 2010 WEB. March 25th Rego A. Christiade Almeida, Luis Percira.
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