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The history of huntingtons disease health and social care essay

Huntington’s DiseaseAshley ClapperMildred Elley CollegeHuntington’s disease once called Huntington chorea is a rare disease that causes part of the brain to decay. A person with this disorder has involuntary movements. It is a genetic disorder where it is passed through families and is inherited through a parent’s genes (Ferrara, 2010).” Huntington disease affects an estimated 3 to 7 per 100, 000 people of European ancestry. The disorder appears to be less common in some other populations, including Japanese, Chinese, and African descent” (NIH, 2008). The most common form of this disorder is adult-onset Huntington’s disease, which usually begins affecting their body in their thirties or forties. Some early signs and symptoms could include irritability, involuntary movements and depression. Many people that develop this disorder can begin to have twitching or jerking movements. As this disease advances the movements get worse (NIH, 2008). Another form of Huntington’s disease would be early-onset which begins in childhood. This form also has the same symptoms as adult-onset just happens a lot sooner and can advance a lot more quickly in children. Both adult-onset and early-onset tend to live about 10 to 15 years after signs and symptoms arise (Huntington disease, 2008). Huntington’s disease is caused by a genetic defect which causes part of the DNA to occur many more times that it is supposed to. The normal amount of repeats for DNA is 10 to 28 times. In a person with Huntington’s, it is usually repeated 36 to 120 times. When the gene is passed through families, there is a higher risk of getting the disease as the number of repeats gets bigger and an individual may develop symptoms at an earlier age (NIH, 2008). The neuropathology of Huntington’s, which is the study of disease of the nervous tissue, is mainly the decay of neurons of striatum and motor cortex. Clinical process of Huntington’s disease usually begins in midlife, thirties or forties and affects the person’s body, such as loss of muscle control, personality changes, gradual loss of mental processing and eventually death. Huntington’s disease mainly affects the central nervous system, but most patients either die of heart attack or respiratory difficulties from being restricted in bed for a long period of time or by frequent falls (Brown, 2011). A person with the disease may first make strange and unusual facial expressions and become clumsy. She/he may become irritable and forgetful. The person can appear to be drunk without having consumed any alcohol. The awkwardness that comes from this disease can also put the person in danger. For example, a person could lose his/her balance while crossing the street (Ferrara, 2010). Early signs and symptoms of the disease vary greatly from person to person. A common observation is that the earlier the symptoms happen, the quicker the disease advances. Family members may first notice that the individual experiences mood swings or irritability. These symptoms may lesson as the disease advances or in some cases they may continue and get worse. The disease may affect individual’s judgment, memory and other cognitive functions. Some other signs might include having trouble driving, learning new things, remembering a fact, answering a question or even making a decision. There also may be a change in handwriting. As this disease advances concentration on rational tasks become increasingly difficult. In some cases the disease may begin with uncontrolled movements in the fingers, feet, face or trunk. These movements get worse when the individual experiences anxiety. This disease can reach a point where speech is slurred and vital functions such as swallowing, eating, speaking and walking continue to decline. Some individuals cannot recognize other family members, however many are able to express emotions (Medicinenet, 2009). Difficulties may emerge when the individual with the disease is trying to express how they feel and communicate but can no longer pronounce words correctly. As the loved one or a patient care assistant, it is helpful to repeat words back to the patient so that he or she knows that some thoughts are understood. People can assume that if the affected patient does not talk, they must also not understand. As a caregiver you should never isolate the patient by not talking to them and it is very important to try and keep their surrounding as normal as possible. Speech therapy may be a good way to improve the individual’s communications (Medicinenet, 2009). It is important for a person with Huntington’s to maintain a physical fitness as much as his or her condition of the disease allows. Individuals who exercise and keep active tend to do better than those who do not. A daily routine of exercising can help the person feel better physically and mentally. Even though the individual’s coordination may be poor, they should still continue walking, with assistance if necessary. Those that can still walk independently should be allowed to do so as long as possible and careful attention should be given to keeping their surroundings free of hard, sharp objects. This will help arrange the maximum amount of independency that the individual can have while diminish the risk of injury from a fall. Individuals can also wear special padding during walks to help against injury from falls. In some cases, people have found that small weights around the ankles can help their balance. Wearing sturdy shoes that fit well can help too, especially shoes without laces that can be slipped on or off easily (Medicinenet, 2009). Even though a psychologist or psychiatrist, a genetic counselor, or other specialists may be needed at different stages of Huntington’s, generally the first step in diagnosing and finding treatment is to see a neurologist. While the family doctor may be able to diagnose Huntington’s and monitor the illness, it is still better off to go see a neurologist so they could manage the various symptoms (Medicinenet, 2009). In diagnosing the disease, a neurologist will meet with patient and look through their medical history and rule out any other conditions. Doctors will also look into a patient’s family history to see if the gene runs in their family. This process is called genealogy. It is very important for the patient or family members of patients to be as accurate as they can be so the doctor can diagnose correctly. The doctor will ask the patient if there was any rational or emotional problems; then check patients hearing, eye movements, strength, coordination, reflexes, and will probably order multiple lab tests. Using a blood sample, the tests check the DNA for the Huntington’s disease defect by counting the number of repeats in the gene. The normal amount of repeats for a person without the disease is 28 or fewer CAG. An affected individual with the disease has 40 or more repeats (Medicinenet, 2013). A neurologist may ask patients to take a brain image exam, which can be a CT scan or an MRI, both of which provide excellent images of brain structure. Patients with the disease may show that part of the brain has shrunk and the fluid-filled cavities within the brain, called ventricles, are enlarged. These changes do not alone indicate Huntington’s disease because there are other disorders that present the similar signs. In addition, a person can have early symptoms of Huntington’s disease but have a normal CT scan (Medicinenet, 2009). Pre-symptomatic testing is used for people who have a family history of the disorder. Doctors can do a genetic test to see if the patient is at risk. Some may or may not want to undergo testing. In some cases, people want to know because of the extent to which their lives could be affected, such as their career or life planning. Patients that decide to do the pre-testing also see a counselor so that they are aware of the disease and what the outcome could be if the diagnosis was positive. The reason for counseling is because Huntington’s can be fatal and lead to psychological problems, or even suicide. Suicide is a major risk for people with Huntington’s disease (Robinson, 2003). A person with Huntington’s disease may be able to maintain a job for several years after their diagnosis, although there will be an increase in disability. Loss of cognitive functions and increase in motor and behavioral symptoms eventually prevent the person with the disease from continuing employment. Severe motor symptoms prevent mobility. Death usually occurs between 10 and 30 years after symptoms begin, usually a result of pneumonia or a fall. Advanced weakness of respiratory and swallowing muscles leads to increased risk of respiratory infection and choking, the most common causes of death. Current research in this area is focusing on nerve cell transplantation (Gulli & Frey, 2006). There is no actual treatment for Huntington’s disease. Physicians will prescribe a number of medications to help control emotional and movement problems linked to the disease. One of the major medications prescribed is called tetrabenazine which treats the involuntary movements. Most medications used to treat the disease have side effects such as fatigue, restlessness and overly stimulation (Shannon, 2010). Dopamine blockers also may help lower the abnormal behaviors and movement. Another drug given for uncontrollable movements would be amantadine. Depression and suicide are very common for people that are diagnosed with the disease. It is important for people who care about an individual affected by this disease to watch for symptoms and treat accordingly. As this disease advances, the individual will need supervision and need assistance in daily care and eventually, may need 24-hour care (Huntington’s Disease, 2013). The goal of the treatment is to slow down the process of the disease and help the person function for as long and as comfortable as possible (Shannon, 2010).

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