Huntington Disease

Huntington Disease


Huntington disease, chorea, or disorder ( HD ), is an incurable genetic disorder that affects muscle coordination neurodegenerative and some cognitive functions, usually become apparent in middle age. This is the most common genetic cause of abnormal involuntary writhing movements called chorea. It is much more common in people of Western European descent than in those from Asia or Africa. The disease is caused by a dominant mutation in one of two copies of a particular gene, located on chromosome 4 . Each child of an affected parent has a 50 % chance of inheriting the disease. In rare situations where both parents have the affected gene, or either parent has two affected copies , this chance is greatly increased. Physical symptoms of Huntington's disease can start at any age from infancy to old age, but usually begin between 35 and 44 years old. On rare occasions, when the symptoms begin before about 20 years, they progress faster and a little different, and the disease is classified as juvenile, akinetic - rigid variant of HD or Westphal.
Huntingtin gene normally provides the genetic code for a protein that is also called " huntingtin ". Huntingtin gene mutation codes for a different form of the protein , whose presence resulted in gradual damage to specific regions of the brain. The proper way this occurs is not fully understood. Genetic testing, which has been made ​​possible since the discovery of mutations, can be done before the onset of symptoms in relatives of an affected individual , as an antenatal test, and also the test - tube embryo, raising ethical debate. Genetic counseling has been developed to inform and assist individuals considering genetic testing and has become the dominant model for genetic diseases .
The proper way HD affects individuals varies and can differ even between members of the same family, but the symptoms progress predictably for most individuals. Early symptoms are a lack of coordination and unsteady gait. As the disease advances, uncoordinated body movements become more apparent jerky, along with a decline in mental abilities and behavioral and psychiatric problems. Physical abilities are gradually impeded until coordinated movement becomes very difficult, and mental abilities generally decline into dementia. Although the disorder itself is not fatal , complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years after symptoms begin. There is no cure for HD, and full- time care is often required in the later stages of the disease, but there are treatments to relieve some of the symptoms appear.
Self -help support organization, first established in 1960 and increasing in number, have been working to raise public awareness, to provide support for individuals and their families, and to promote research. These organizations are instrumental in finding the gene in 1993. Since that time there have been important discoveries every few years and improved understanding of this disease. Current research directions include determining the exact mechanism of the disease, improving animal models to expedite research, clinical trials of drugs to treat symptoms or slow the progression of the disease, and studying procedures such as stem cell therapy in order to repair the damage caused by this disease.


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