Can you get Huntington's disease without having family history?
Huntington's disease (HD) is a rare, inherited disorder that affects the brain and nervous system. It is caused by a mutation in the HTT gene, which produces a protein called huntingtin. The mutated huntingtin protein is toxic to nerve cells, and it gradually damages and kills them over time.
HD is usually inherited in an autosomal dominant manner, which means that a person with HD has one normal copy of the HTT gene and one mutated copy. Each child of a person with HD has a 50% chance of inheriting the mutated gene and developing the disease.
However, in very rare cases, HD can occur in someone who does not have a family history of the disease. This is known as a de novo mutation. De novo mutations occur when a mutation occurs in the HTT gene during the formation of an egg or sperm cell.
The risk of having a de novo mutation is very low, but it increases with the age of the father. This is because the HTT gene is located on the X chromosome, and men have only one X chromosome. As men age, the X chromosome can accumulate mutations.
If you have a family history of HD, you should talk to your doctor about genetic testing. Genetic testing can determine if you have the mutated HTT gene and if you are at risk for developing HD.
Related Questions
- Can HD be cured? No, HD is a progressive disease that cannot be cured, but there are treatments that can help manage the symptoms.
- How is HD diagnosed? HD is diagnosed through a physical exam, a neurological exam, and genetic testing.
- What are the symptoms of HD? The symptoms of HD include involuntary movements, cognitive decline, and personality changes.
- How long do people with HD live? The average life expectancy for people with HD is 15-20 years after the onset of symptoms.
- What are the treatments for HD? There are no treatments that can stop or reverse the progression of HD, but there are treatments that can help manage the symptoms.
Related Products
- Huntington's Disease Foundation: https://hdsa.org/
- National Institute of Neurological Disorders and Stroke: https://www.ninds.nih.gov/Huntington-Disease-Information/Huntington-Disease
- Huntington's Disease Society of America: https://hdsa.org/
- Huntington's Outreach Project for Education at Stanford (HOPES): https://med.stanford.edu/hopes/
- The Hereditary Disease Foundation: https://www.hdfoundation.org/
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