Huntingtons Disease Essay

1887 words - 8 pages

In 1892, George Huntington described this disease in the following quote:
The hereditary chorea, as I shall call it, is confined to certain and fortunately few families, and has been transmitted to them, an heirloom from generations away back in the dim past. It is spoken of by those in whose veins the seeds of the disease are known to exist, with a kind of horror and not at all alluded to except through dire necessity when it is mentioned as “that disorder”.
George Huntington was not the first to describe the disease, but he was the first to present an account in concise clear detail. After Huntington’s research, the disease was known as Huntington chorea. Chorea meaning sporadic, ...view middle of the document...

According to Folstein (1989), motor impairments could be separated into two integral components: irregularity in voluntary movements and involuntary movements. It is essential to remember that this disorder progresses over time, correlating with the advancement of the symptoms. Abnormalities in voluntary movements are a clinical manifestation of HD. Early on in the disorder clumsiness would be apparent. A person would have difficulty performing simple everyday tasks such as tying ones’ shoe and other activities of daily living. As the disorder would progress, movements would become slow and latency periods would appear. Soon after these manifestations, and inability to completely control fine motor function occurs which eventually leads to loss of function in a patient’s hands (Folstein, 1989, p.23). Gait, eye movement, speech and the ability to eat are also affected. The abnormalities found in a patients gait vary depending on how advanced the disease is, though the most common manifestations include a slow gait, short steps and strain pivoting (Folstein, 1989, p.27).
The function of the eyes is altered as well in patients with HD. The movement of the eyes become sporadic and slow but as the disease progresses patients may only move their eyes in response to certain stimuli, and Folstein (1989) described this as the “ doll’s eyes” maneuver.
Speech is also altered in HD and it is apparent through the patient’s inability to control speed and process rhythm. Volume, speed and control of speech slowly disintegrate causing difficulty communicating, which then leads to the absence of speech altogether. In the following quote, Folstein gave a concise deduction on what causes the changes in speech. She stated:
The motor difficulties with speech probably result from irregular breathing and the loss of control of the tongue, combined with cognitive changes related to the speed and persistence of thought processes and the loss of ready access to memory stores (1989, p.25).
As Folstein mentioned above, multiple factors influence the regression of a patient’s speech and it’s a patient’s loss of tongue control and irregular breathing that lead to dysphagia.
Dysphasia is a term that means difficulty swallowing. The process of eating, requires both voluntary and involuntary actions. In HD, coordination and control is impaired, and according to Folstein (1989) tongue and swallowing movements are “ineffective in moving the food toward the back of the mouth (p.27)” This places patients with HD, at risk for aspiration and potential complications that arise from the inability to properly consume food and liquids.
Involuntary movement are also a common clinical manifestations that arise from HD. Some of the movements that occur include motor restlessness, dystonia, tremors and myoclonic jerks (Folstein, 1989, p.20). Patient often experience motor restlessness and it is observed through the person’s inability to remain still. This lack of control eventually...

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