Huntington’s Disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain (Mayo Clinic 2018). Huntington’s Disease is incurable and can only be helped with treatment for symptoms. Huntington’s usually onsets in patients in their thirties to fifties, but the condition can develop in earlier stages of life. There are screening tests available for the disease for both prenatal and pre-symptomatic patients. Because not everyone whose parents have the condition pass it on, many potential victims of the disease often make the choice to either get the test or not. Taking the genetics screening test available for Huntington’s is better than going through life without being certain.
Huntington’s Disease is located on the fourth chromosome of the human genome. The mutation is in the sequence to produce a protein called huntingtin. The issue arises the genetic sequence repeats “CAG” to many times. That sequence normally appears approximately eleven to twenty times in healthy DNA, but in Huntington's Disease it can appear between forty and eighty times. The test for Huntington's is a blood test. The test reads the DNA sequence on the fourth chromosome to see if the count of CAG is high enough to diagnose Huntington’s Disease (NHGRI 2011).
When Huntington’s Disease onsets and starts breaking down the nerve cells in the brain it causes a series of unfortunate symptoms. The symptoms of the disease can be categorized into three groups; movement disorders, cognitive disorders, and psychiatric disorders. The movement disorders include involuntary jerking, slow or abnormal eye movements, impaired balance, and difficulty with speech and swallowing (Mayo Clinic 2018). The physical disabilities more often causes individuals to not be able to work because of the impairments to movement rather than the involuntary movements. Cognitive disorders involve many difficulties focusing on tasks and social behaviors. This often causes individuals affected by the disease to act without impulse control, causing outburst in speech or physical actions. The Psychiatric symptoms that occur with Huntington's Disease are not simply just the reaction of finding out the patient has the condition but rather damage to the brain itself. The disorders directly caused by the disease include depression, insomnia, fatigue, social withdrawal, and frequent thoughts of suicide. Huntington's injures parts of the brain that controls such symptoms. Patients who have the condition typically live for about ten to thirty years after symptoms appear. Often causes of death for long term patients include, infection, fall related accidents, and complications with the ability to swallow food (Mayo Clinic 2018). Although the later stages of this condition incapacitate individuals they can still understand language and the comfort of family and friends.
The disease has the possibility to be inherited when one of more parent has a chromosome affected by the sequence signified by Huntington's. The gene that causes Huntington’s is dominant so, ff one parent has only one gene affected by Huntington’s then the chances of offspring developing Huntington’s is 50% (Muthan U. 2018). If an individual has a family history of Huntington’s Disease then they should consider receive genetic counseling on whether or not to receive the test. Of course being at risk for a disease that has no treatment can be rather cumbersome but the knowledge of knowing the future can help one prepare for it. Not taking the test runs the risk of going through life not preparing for when you can no longer take care of yourself. A group of 68 individuals were screened for Huntington’s disease, in which there were 17 individuals that were high risk for Huntington’s while the rest were low risk (Codori AM, Brandt J 2018). Both high risk and low risk patients reported that the relief from the uncertainty outweighed the negatives of the process. The high risk individuals reported they became closer with their families and made adjustments to have greater financial security. Low risk individuals were also granted the satisfaction that their children were spared from having the condition. The high risk group reported that they had minor psychiatric concerns because they started to worry when Huntington’s would start.