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Pathophysiology of the Huntington's
Pathophysiology of the Huntington's
Pathophysiology of the Huntington's
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Recommended: Pathophysiology of the Huntington's
Huntington’s is a disease that is caused by a genetic defect on chromosome 4. This defect causes the CAG repeat to occur more than it’s supposed to. This section of DNA is repeated 10 to 28 times in a normal person but a person with Huntington’s it’s repeated anywhere from 36 to 120 times, depending on how severely their affected. This is an inherited disease that causes a progressive degeneration of the nerve cells in the brain which affects many aspects of a person such as their behavior, movements, cognitive thinking, and causes several other problems.
HD is an autosomal dominant disease so if one of your parents have it, then you have a fifty percent change of getting the gene. If you do get the gene then your children are equally as likely to get it, assuming your significant other doesn’t have the gene also. If you don’t get the gene from your parents, however; then you can’t pass it on. Since it is an autosomal disease you will either get it or not, you can’t be a carrier. As the gene is passed down, the number of repeats gets larger. The larger the number of repeats, the higher your chance of developing symptoms at a younger age and the more severely you will be affected. So the more the disease is passed on, the younger symptoms will develop. There are two forms of Huntington’s disease; the first
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The goal of getting treatment, however; is to slow down the progression and worsening of symptoms to help the person function as long as possible. There are medicines that can help. Dopamine blockers can help reduce abnormal behaviors and movements while drugs like amantadine and tetrabenazine can be used to try to control extra movements. People with this disease generally die within 15-20 years, or around 10 years for children. The cause of death is often an infection, like pneumonia, injuries related to falls, troubles involving the inability to swallow, and often
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
One very special case can be displayed by none other than David Beckham, the famous international football star. He says that he has tried various treatments, but the biggest success came from learning to live with the disease (Healthguru, n.d.). His family is also very supportive of his condition, which shows how important family support is. Quoted by Victoria Beckham, his wife, “We've got three fridges - food in one, salad in another and drinks in the third. In the drinks one, everything is symmetrical. If there's three cans, he'll throw one away because it has to be an even number” (Frith,
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
It is sad to say that there is no cure to FTD. The average life expectancy after the diagnosis is only five to ten years.As time passes, motor problems are common and the disease rapidly gets worse. The FTD treatment focuses on managing the symptoms, especially those affecting behavior. Doctors can prescribe...
...agnosed at a later stage, most people die within two years of diagnosis and treatment.
...t behavior, and abnormal physical movements. Despite the positive outlooks one must remember that the seizures do take a toll on a person’s health and although the brain in most cases is able to withstand seizure problems without any neuro-degeneration events or any morphologic changes; those with AS should expect to see life expectancy drop anywhere from 10-15 years. With that being said, that still gives anyone afflicted a maximum of 65-70 years if treated correctly which can be considered a good thing because there are other disorders that can do a lot more damage.
From generation to generation diabetes has continued to claim lives on my mothers side of the family. From recent memory my great grandmother, aunt, and three cousins have had diabetes. Once a trait like diabetes enters your family it is passed down through genetics but it is also not guaranteed that all your family members will get it. You may be asking yourself what exactly diabetes is, what it does to your body and is their a cure? This disease affects us in many ways than one, as I will introduce to you.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
This disorder is caused by an inherited flaw on one gene (Mayo Clinic, 2010). Individuals in of western European around 1 in 20,000 are born with a gene that causes this disorder. Huntington’s disease is not as much common in areas such as Asia and Africa (Your Genes Your Health, 2012). People all over the world are affect by HD. HD is another way of saying Huntington’s disease. On Figure 1.0 you can see a person who has been affected with HD.
disease that Stephen Hawking has) 5 years ago. This is a condition that destroys motor nerves, making control of movement impossible, while the mind is virtually unaffected. People with motor neurone disease normally die within 4 years of diagnosis from suffocation due to the inability of the inspiratory muscles to contract. The woman's condition has steadily declined. She is not expected to live through the month, and is worried about the pain that she will face in her final hours. She asks her doctor to give her diamorphine for pain if she begins to suffocate or choke. This will lessen her pain, but it will also hasten her death. About a week later, she falls very ill, and is having trouble breathing.
Huntington’s disease – Is a fatally rare condition that causes the gradual deterioration of the nerve cells in the victim’s brain, typically affecting persons fro...
Several medications are available that may, in some individuals, improve symptoms or temporarily slow the disease progress, including: Cognex, Aricept, Exelon, and Reminyl. Other drugs are now being tested and could be marketed in the near future.
I still have yet to acquire the symptoms of Huntington’s disease, but I know one day they will come. Until then I’m making the most of everything and living my dreams. I’ve visited half the national parks in the country, and traveled all over Europe with my parents and Brice. I’ve also decided to help others with my disease by participating in studies that are working towards learning more about the disease and finding at least a treatment to delay symptoms. I don’t expect for this to occur in time for me, but it makes me feel better knowing that I will have helped save others in my position. Most of all, I’m living every moment, getting as much time with my loved ones as possible.