Two genetic disorders resulting from autosomal dominant disorders include Huntington Disease and polycystic kidney disease.
Huntington Disease affects the brain, causing loss of cognition and uncontrolled movements and emotions (Genetics Home Reference, 2016). The involuntary movements which accompany this condition are known as Huntington’s chorea (Genetics Home Reference, 2016). The known genetic market which poses a high risk for the development of Huntington Disease is known as the HTT mutation, which is a segmented of repeated cytosine, adenine, and guanine referred to as the CAG trinucleotide repeat (Genetics Home Reference, 2016). While the disease is not more prevalent in either gender, the progression of the disease is faster in women (Zielonka et al., 2013).

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Autosomal dominant polycystic kidney disease (ADPKD) affects multiple systems of the body including cysts in the liver, pancreas, renal cysts and vascular problems which increase an individual’s risk for problems such as aneurysm, mitral valve prolapse of the heart and hernias of the abdominal wall (Harris & Torres, 2015). About 85% of those who develop the disease have a pathogenic variant in the genetic marker referred to as PKD1 while 15% have pathogenic variants in PKD2 (Harris & Torres, 2015). While the condition is not more prevalent in one gender, males tend to have more rapid progression (Stringer et al., 2005).

Both Huntington Disease and ADPKD are conditions for which genetic testing can determine and identify those persons with a great risk of developing the disease, many individuals choose not to be tested despite high familial rates of the condition. This is due to the high accuracy of the genetic testing; a positive result for high risk of development of these diseases can be greatly disturbing as the individual feels they can do no more than wait for the disease to manifest and progress.

    References
  • Genetics Home Reference. (2016). Huntington disease. US National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov
  • Harris, P. C., & Torres, V. E. (2015). Polycystic kidney disease, autosomal dominant. Gene Reviews. University of Washington, Seattle.
  • Stringer, K. D., Komers, R., Osman, S. A., Oyama, T. T., Lindsley, J. N., & Anderson, S. (2005). Gender hormones and the progression of experimental polycystic kidney disease. Kidney International, 68(4), 1729-1739.
  • Zielonka, D., Marinus, J., Roos, R. A., De Michele, G., Di Donato, S., Putter, H., … & Landwehrmeyer, G. B. (2013). The influence of gender on phenotype and disease progression in patients with Huntington’s disease. Parkinsonism & related disorders, 19(2), 192-197.