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Detection Of Huntingtons' Chorea Essay

871 words - 3 pages

For the average person the idea of a health issue is the occasional upset stomach or catching the flu. Imagine living each gradual day losing a little more control over the use of muscles and nerves. Huntington’s Chorea is a neurodegenerative genetic disease that proves to have a devastating effect and has many varied methods of testing.
Huntington’s Chorea, also known as Huntington’s Disease or HD, is a incurable genetic disorder that causes the nerves in the brain and body to slowly decay over time. This degeneration of the nerves causes jerky movements, known as chorea, loss of some intellectual function, and sometimes emotional distress (Quarrell, 46). The symptoms of Huntington’s Chorea usually do not show up until adults are between the ages of thirty-five and forty-four. The early stages of the disease present themselves in a quiet manner, causing a subtle change in personality or physical skills (Wynbrandt, 171). Many adults accept those as effects of the natural aging process. As the disease progresses, these symptoms become more severe. Physically a sufferer may experience difficulties in swallowing and chewing, along with experiencing jerky motions and abnormal facial expressions, with the eventual loss of use of their limbs. Dementia, which is a loss of memory over time, sudden aggression, and development of alcoholism, are some of the many cognitive effects a person with Huntington’s Chorea will suffer (Wyndbrandt, 171).
Since the symptoms of HD are so severe and do not show until adulthood, and the disease is acquired at conception, it is hard to discover a positive diagnosis of Huntington’s Chorea before it is too late. Although the possibility of pre-symptomatic testing is available, few choose to do so, because they do not want to face the reality of being diagnosed with the disease (Quarrell, 83). A person can be tested for HD in a variety of ways, which include clinical, genetic, embryonic, and differential diagnosis.
A clinical diagnosis is a very simple way of identifying if a person has Huntington’s Chorea. A physical examination is paired with a psychological evaluation to determine if one has the disease. This method of diagnosis is usually done once physical symptoms have onset (Wyndbrant, 173). While a clinical diagnosis is a simple way to determine the prognosis, it all boils down to an educated guess due to a lack of blood work. Because HD is a genetic disorder all other forms of diagnosis other then genetic testing are considered educated guesses.
Since Huntington’s Chorea is a disease affecting a dominate gene, genetic testing is very accurate and recommended. The testing is very simple. Blood is drawn...

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