Hunting: Difference between revisions
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Revision as of 11:59, 18 February 2025
Huntington's disease (HD), also known as Huntington's chorea, is a genetic disorder that results in the death of brain cells. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. As the disease advances, uncoordinated, jerky body movements become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, but can start at any age. The disease may develop earlier in life in each successive generation. About 8% of cases start before the age of 20 years and typically present with symptoms more similar to Parkinson's disease. People with HD often underestimate the degree of their problems.
Causes
HD is a type of neurodegenerative disease that is primarily genetic. The disease is inherited in an autosomal dominant manner, meaning that an affected person typically inherits one copy of the gene with the disease-causing mutation and one copy without the mutation. The disease is caused by an unstable CAG repeat expansion in Huntingtin, the gene that codes for the protein huntingtin. This means that children of affected people have a 50% risk of inheriting the disease and are said to be "at-risk". Males and females are affected equally.
Diagnosis
Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present. This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results.
Treatment
There is no cure for HD. Full-time care is required in the later stages of the disease. Emerging evidence suggests that physical therapy and regular physical activity may slow down the progression of the disease and improve physical functioning.
Prognosis
Life expectancy is generally around twenty years following the onset of visible symptoms.
Epidemiology
HD affects about 4 to 15 in 100,000 people of Western European descent. It is less common in other populations.
History
The disease is named after George Huntington, who first described it in 1872.
See also
References
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