Huntington disease essay
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Huntington's disease (before - Huntington's chorea) is a rare genetic disorder of the brain characterized by involuntary jerky movements (chorea), restless behaviour and degradation of personality and intelligence, leading to mental, physical, and emotional changes in human health that cause dementia. George Huntington was the physician who first described this mental and physical disease in 1872.
The prevalence of the disease is about 1:10000. According to Deepti "chorea" refers to neurological diseases that are characterized by spasmodic movements of the limbs and facial muscles. ("Huntington Disease.")
The disease can begin with any of these symptoms, or both. Huntington's disease can develop at any age, but more often the first symptoms appear within 30-50 years. Fifty percent of children from the diseased parents are at risk.
Men suffer more than women; the first symptoms are restlessness, fidgeting movements, which is not considered the patient and his family as a disease. Over time, however, the growing movement disorders and can lead to disability. Frequent, sudden, spasmodic convulsive movements of the limbs or trunk are among characteristic features of Huntington's disease. The spasms of facial muscles, sobbing, disorders of articulation may be possible. The motor coordination suffers when the person walks: the gait becomes "dancing" (trochaic). Memory remains intact until late stages of the disease, whereas attention, thinking and executive functions are impaired in the very beginning of the disease. Often there exists depression, apathy, withdrawal and irritability. In some cases, delusions and obsessions develop; therefore, the schizophrenia is misdiagnosed.
It is not uncommon for some people to deny they have the condition and take a long time to come to terms with the diagnosis. (“What Is Huntington's Disease? What Causes Huntington's Disease?”)
Huntington's disease usually appears on the 4-5th decade of life by progressive choreoathetosis, which is accompanied by severe mental disorders (dementia, depression with frequent suicide attempts, impaired emotional control with frequent tantrums and aggression.) Sometimes the disease appears in adolescence by growing akinetic-rigid syndrome.
The disease is characterized by a primary lesion of the striatum in human brain.
After identifying the features of pathology in humans, in order to accurately diagnose the presence of confirmatory syndrome among relatives, the family anamnesis is necessary. The use of an expert study of the nervous system in carriers of the abnormal gene can identify small changes in speed, movements and reactions, long before the time when the disorder will be expressed.
Laboratory analysis of blood using DNA samples is effective in the detection of abnormalities in certain groups. They include:
- Patients, who are carriers of the gene;
- Patients with evidences of disease;
- Babies in the womb.
However, genetic research could provoke quite a lot of stress and endanger the further course of the pregnancy. Rattue stated that Huntington`s Disease is a progressive disorder in which nerve cells in certain parts of the brain waste away or degenerate and affects muscle coordination.(“ Huntington's Disease - Stem Cell Therapy Potential”)
In the process of diagnosing, a necessary condition is to exclude other causes of disease. These include, in particular, taking certain categories of medicines, apoplexy, or abuse over an extended period of alcohol. Death usually occurs because of attendant complications, including pneumonia, cardiac disease and trauma. Also, a frequent cause of death is suicide.
Today, the disease cannot be cured. However, the therapeutic measures used to alleviate symptoms, decrease of their intensity, as well as providing patient psychological counselling.
Among the drugs that can reduce the severity of symptoms, apply phenothiazines. They control the chorea. Treatment is carefully enough, in accordance with the characteristics of the patient in order to avoid side effects. Dopamine agonists can maintain control of muscle tension. However, in practice, in this condition, they are less effective than in Parkinson's disease.
To ease anxiety, depression, irritability, and other psycho-emotional disorders, patients received physiotherapy.