Research Paper on Huntingtons Disease free essay sample

Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means, there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination, cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntingtons has an intense effect on patients, as individuals gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011). Children born to parents who suffer from the disease have a 50% chance of inheriting and developing it. Hence, during pregnancy it is possible to find out if the child will carry the mutated gene by using two tests: amniocentesis and chorionic villus sampling (CVS); although it will not be able to verify what age the child will begin to develop the disease. Huntington’s disease affects 30,000 people in the United States and 150,000 people are at risk in inheritance. Symptoms usually appear in middle aged life at around 40-50 years of age. On the other hand, if the disease onset begins by the age of 20 it is called Juvenile Huntington disease, the symptoms and stages will progress faster. (Mayo Clinic Staff, 2011) There are five stages that are involved but they are broken down into the early, middle, and late stages. However; each individual’s symptoms vary in severity from stage to stage. Early symptoms of Huntington’s disease usually consist of; mood swings, depression, loss of memory, uncontrolled movements, emotional issues, physical activities and functional abilities, a lack sleeping well, difficulty in organizing, concentrating and remembering daily information, and low motivation. As the disease progresses, walking and speech become more difficult, and memory and intellectual functions continue to weaken (Saldert, Fors, Stroberg Hartelius, 2010). By the middle-stage, along with the previous affects that progresses and becomes more intense, it also affects one’s ability to work and drive or to do house chores. Socializing is lessened. Eating becomes a challenge, because a patient has trouble with movements of the muscles while swallowing. Speech becomes slurred, walking begins to weaken and cognitive thinking becomes problematic. By the late-stage, one can barely speak and all previous symptoms are more drastic. Choking is a major concern because it becomes extremely difficult to swallow; therefore they are usually fed with a feeding tube. By this stage it is more difficult to care for a patient, and this is when they are usually admitted into a nursing home for further care (Henlin, 2011). Huntington’s disease does not only have an intense effect on patients, it also has a great amount of effects on family members and loved ones Speech and language functions are controlled in the left side of the brainstem and cognitive functions are controlled in the right side of the brain. Huntington’s disease usually begins in the caudate nucleus and putamen, which are located in the core; the central part of the brain and spread to other control centers which causes communication and swallowing problems (Henlin, 2011). Huntington’s disease begins to affect speech and language communication in the early stage but gradually becomes more intense throughout each stage as the disease progresses. It is affected by causing muscle weakness, dysarthria, apraxia, perseveration, weaker rate of control, poor voice quality, misarticulation, discoordination of breathing and voice, short length of utterances – responds with few words, lack of initiation and stuttering, incorrect pronunciation of sounds, word-finding difficulties, difficulties with understanding information, reading, writing, and beginning a word or sentence (Henlin, 2011). Language is affected which causes cognitive issues as well. It usually begins in the middle stage. Patients suffer difficulty with organizing ideas, diminished memory; immediate and short-term – however long-term memory usually will remain unharmed, poor reasoning, concentration issues, short attention span, and a reduced new learning ability (Rhoades, 1997). Essentially, an individual’s phonological and articulation skills become greatly affected as the disease gradually progresses. Dysphagia is a difficulty in swallowing and is common among people who suffer with Huntington’s disease. A major cause of death is aspiration pneumonia; when food or liquid enters the airway oppose to the esophagus during eating or drinking, and then forms a collection in the lung that becomes pneumonia. Other problems that are associated with the effects of swallowing are; difficulty controlling rate of food or liquid ingestion, impulsivity while eating, difficulty chewing and initiating a swallow, holding food or liquid in the mouth, drooling and spillage, incomplete swallows – whereas the food or liquid is left in the mouth or throat, a ajor lack of coordination between swallowing and breathing or speaking, chorea of oral or pharyngeal muscles and the need to swallow repeatedly for each bite and sip. One may have continuous choking or coughs, frequent throat clearing, and wet sounding breathing (Rhoades, 1997). Swallowing becomes affected from the beginning of all stages, but mostly begins in the middle stage; it gradually increases and becomes more intense as the disease prog resses throughout all of the stages. It eventually leads to an individual who is suffering with Huntington’s to not being able to swallow at all, and to be fed; as stated earlier, with a feeding tube. There is no cure for the disease although there are many ways to cope with the condition within each stage. In essence, speech language and swallowing impact each other, therefore they all are affected by Huntington’s disease.