Huntington's Chorea

Genetic Transmission

Huntington's Disease is cause by a genetic defect on chromosome 4. This causes a part of the DNA known as the CAG repeat to occur many more times than it is supposed to. A person that has Huntington's Disease can pass it on to their children. As the gene is passed down through generations, the number of repeats tend to get larger. There is a 50% chance of getting the gene for the disease if one of the parents has Huntington's disease. If the offspring gets the gene then they will develop the disease some point in their lives. If the gene is not passed on to the offspring, then the gene won't be able to be passed to the next generation.


References: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC534940/


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Symptoms/Diagnosis/Frequency

Symptoms of Huntington's disease include uncontrolled movement of the arms, legs, head, face and upper body, a decline in thinking and reasoning skills (memory, concentration, judgment and ability to plan and organize), alterations in mood, and obsessive-compulsive behavior.


Because of a discovery of the defective gene that causes Huntington's disease in 1993, a diagnostic genetic test was developed. The test can confirm that the defective gene for the disorder is the cause of symptoms in people with suspected Huntington's disease and can detect the defective gene in people who don't yet have symptoms.


Huntington's disease is more of a rare disease because it affects an estimated 3 to 7 per 100,000 people of European ancestry. It's even more rare in countries such as Japan, China, etc.


References: http://www.alz.org/dementia/huntingtons-disease-symptoms.asp

http://ghr.nlm.nih.gov/condition/huntington-disease



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Life Expectancy & Treatments

The average life expectancy of someone after onset of Huntington's Disease is 10-20 years.


Research has not yet found a means of curing or even slowing the deadly progression of Huntington's Disease, however, some medications can relieve some of the symptoms in certain individuals.


References: http://www.hdsa.org/about/our-mission/what-is-hd.html

Interesting Facts

-In the United States, An estimated 30,000 people have Huntington’s Disease

-People with the defected gene can develop Huntington's Disease from two to 80+ years of age

-Huntington's Disease affects all ethnic groups but occurs less in Chinese and Japanese people


References: http://www.caregiver.org/caregiver/jsp/content_node.jsp?nodeid=574

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