Why is huntingtons disease a genetic disorder?
Huntington's disease (HD) is a genetic disorder because it is caused by a mutation in a specific gene. The HD gene is located on chromosome 4, and it codes for a protein called huntingtin. When the HD gene is mutated, it produces a defective huntingtin protein that leads to the development of HD.
The HD mutation is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene is needed to cause the disease. If a person has two copies of the mutated gene, they will have a more severe form of the disease.
HD is a progressive neurodegenerative disorder, meaning that it gets worse over time. The symptoms of HD typically begin in mid-life, and they can include movement disorders, cognitive impairment, and psychiatric problems. There is no cure for HD, but there are treatments that can help to manage the symptoms.
HD is a devastating disease, but it is important to remember that it is a genetic disorder. This means that it can be passed on from generation to generation, but it can also be prevented. If you are at risk for HD, there are genetic tests available that can tell you if you have the mutated gene. If you do have the mutated gene, you can make informed decisions about your reproductive choices.