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What is Huntington's Disease?
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Huntington's disease (HD) is a neurodegenerative disorder that is caused by the aggregation of the mutant huntingtin (mHTT) protein in nerve cells.
HD is an incurable neurodegenerative disease that is characterized by abnormal motor movements, personality changes, and cognitive decline.
Causes of Huntington's Disease
HD is caused by a mutation in the IT-15 gene that abnormally expands the number of CAG nucleotide repeats.
The mutation results in the production of a mutant huntingtin protein that is prone to aggregation.
The aggregation of the mutant huntingtin protein leads to the formation of toxic protein clumps that damage nerve cells.
Symptoms of Huntington's Disease
The symptoms of HD typically begin in adulthood, between the ages of 30 and 50.
- Abnormal motor movements
- Personality changes
- Cognitive decline
The abnormal motor movements can include chorea, which is characterized by involuntary, jerky movements of the limbs, trunk, and face.
The personality changes can include irritability, apathy, and social withdrawal.
The cognitive decline can include memory loss, impaired judgment, and difficulty with planning and problem-solving.
Treatment of Huntington's Disease
There is currently no cure for HD, but there are treatments that can help to manage the symptoms.
These treatments include medications to control the abnormal motor movements, psychotherapy to help with the personality changes, and speech therapy to help with the cognitive decline.
Prognosis of Huntington's Disease
The prognosis for HD is typically poor.
Most people with HD will die within 15 to 20 years of the onset of symptoms.
However, there is a small percentage of people with HD who will live for longer than 20 years.
Research on Huntington's Disease
There is a great deal of research being conducted on HD.
This research is focused on finding a cure for HD and developing new treatments to help manage the symptoms.
There are a number of promising new treatments for HD that are currently being tested in clinical trials.
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