Describe the single-trait genetic disorder of Huntington’s Disease.
Describe the single-trait genetic disorder you selected. State whether it is a dominant or recessive disorder. State whether it is sex-linked or autosomal recessive disorder. Describe symptoms, diagnosis, and prognosis. Discuss treatment options, including medicines/alternative treatments. Discuss incidence rate or statistics. Identify resources that you would use if you or someone you knew had this type of genetic disorder. What can be done to reduce the incidence rates? What are other interesting facts?
Sources in APA
Palaiogeorgou, A. M., Papakonstantinou, E., Golfinopoulou, R., Sigala, M., Mitsis, T., Papageorgiou, L., Diakou, I., Pierouli, K., Dragoumani, K., Spandidos, D. A., Bacopoulou, F., Chrousos, G. P., Eliopoulos, E., & Vlachakis, D. (2023). Recent approaches on Huntington’s disease (Review). Biomedical Reports, 18(1), 1D+. https://link-gale-com.libraryresources.waldorf.edu/apps/doc/A732422500/HRCA?u=waldorfcoll&sid=bookmark-HRCA&xid=1a79dfd8
Bowen, J. (2019). New Treatment Reduces Levels of Protein Linked to Huntington Disease. Psychiatric Times, 36(7), 6. https://link-gale-com.libraryresources.waldorf.edu/apps/doc/A596317849/HRCA?u=waldorfcoll&sid=bookmark-HRCA&xid=ac22063f
Tampi, R. R., Weber, M., & Masterson, G. A. (2021). Early Warnings: Neuropsychiatrie Manifestations of Huntington Disease. Psychiatric Times, 38(3), 25+.
Geijtenbeek, K. W., Janzen, J., Bury, A. E., Sanz-Sanz, A., Hoebe, R. A., Bondulich, M. K., Bates, G. P., Reits, E. A. J., & Schipper-Krom, S. (2022). Reduction in PA28[alpha][beta] activation in HD mouse brain correlates to increased mHTT aggregation in cell models. PLoS ONE, 17(12), e0278130.
In people with HD, the huntingtin gene contains an abnormal expansion of the CAG triplet repeat, which leads to the production of a mutant huntingtin protein. The number of CAG repeats in the gene determines the age of onset and severity of
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HD is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutant gene from either parent to develop the disease. If a parent has HD, each of their children has a 50% chance of inheriting the gene and developing the disorder.
Symptoms of HD usually appear between the ages of 30 and 50, although they can occur at any time. Early symptoms may include involuntary movements, clumsiness, and difficulties with balance and coordination. As the disease progresses, people with HD may experience cognitive decline, including memory loss and difficulty with decision-making and planning. They may also have changes in personality and behavior, including irritability, depression, and impulsivity.
There is no cure for HD, and treatment is focused on managing symptoms and improving quality of life. Medications and therapy can help alleviate some of the movement and behavioral symptoms, while supportive care can help maintain function and independence for as long as possible.