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Huntington's Disease Etiology

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Etiology: Huntington’s disease (HD) is progressive and causes nerve cells to break down within the brain (Huntington’s Disease Society of America, 2015). HD is an autosomal dominant genetic disorder therefore, if one parent has it, there is a 50/50 chance a child will inherit the gene (World Health Organization, 2015). Today, scientists are still working to find out more information about this genetic condition.
Epidemiology: This degenerative brain disorder affects both genders proportionally. The disease usually presents itself within mid-life however, it can manifest as early as two-years-old (World Health Organization, 2015). Today, approximately 30,000 Americans are symptomatic and death occurs 15-20 years following onset (Huntington’s …show more content…

Scientists do not know how HD demyelinates nerve cells (John Hopkins University, 2015). HD’s pathophysiology is still not clear among medical professionals and researchers. The Division of Neuropathology at John Hopkins University reports, “As valuable as they are, animal and cell models of HD are not enough on themselves to unravel the pathogenesis of HD and discover an effective treatment” (para. 1).
Clinical History: The clinical history presents with involuntary jerky movements of extremities and facial muscles that the individual can’t control (Stein, & Roose, 2000).
Signs and Symptoms: Individuals will present with signs and symptoms as: chorea, decline in executive functioning, loss of memory and recall, decreased judgment, mood alterations, anxiety, depression, and impulsivity (Alzheimer’s Association, 2015).
Medical Treatment: Currently, there is no treatment or cure for Huntington’s disease (World Health Organization, 2015).
Prognosis: Unfortunately, with no treatment or cure, the individual eventually becomes completely dependent on a care giver. With a FIM score of 1, an individual is at an increased risk for aspiration, infection, heart failure, and other secondary complications (Pendleton, & Schultz-Krohn, …show more content…

It is a progressive and a fatal disease that brings a vast amount of heartache to its victim, their family, and friends. Once an individual is tested and they are positive with the mutant gene, all occupational domains should be considered. A high emphasis should be placed on their context and environment as the disease presents itself. When the symptoms present themselves, the individual’s occupational engagement will be affected since chorea is a hallmark symptom of HD. All aspects of an individual’s activities of daily living will depend on a caregiver since HD presents with uncontrollable movements of the extremities and facial muscles. As the disease progresses, an individual will eventually be totally dependent on a caregiver since cognition will decline. Client factors will be affected as the brain atrophies and the central nervous system responds to the changes (Wittwer, Webster, & Hill, 2013). The domain of performance skills and patterns will be greatly affected due to dementia, behavioral changes, and chorea. The context and environment of an individual that has HD will need to be modified since HD has no cure and it is progressive. As the HD progresses, the clients functional mobility will diminish and will need a wheelchair. The environment would need to support the mobility of their wheelchair and adaptive

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