Huntington Disease Research Paper

Words: 2299
Pages: 10

INTRODUCTION
Huntington’ disease (HD) is a hereditary, adult-onset, progressive neurodegenerative disorder characterized by the loss of nerve cells in the basal ganglia. It is well-known as a quintessential family disease due to the 50/50 probability for a child of a parent with HD of inheriting the disease. Today, there is approximately ~30, 000 symptomatic Americans and more than 200,000 American at-risk of developing the disease (1, 2). The purpose of this paper is to discuss and summarized the etiology, pathophysiology, symptoms and methods of diagnosis of HD and concentrate, using existing data on discussing the available treatments HD and current findings.
BACKGROUND
HD is a genetic disorder that effects of the nervous systems. The
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Scheme showing the main pathways of the BG associated with motor impairment in HD
SYMPTOMS & PROGNOSIS
The symptoms of HD includes progressive chorea (uncontrolled movements), unsteady gait, slurred speech, and difficulties in eating and. People with HD also experience personality changes and mood swing and depression. These symptoms usually beings between ages of 30 and 50, and progressively worsen over 10 to 25 year period. Early onset of HD is identified as juvenile HD (JHD) and usually appears under the age of 20. The symptoms of JHD rigidity, unsteadiness, decline in learning ability, changes in speech and seizures (3, 6).
The stages of HD vary from person to person. In the early stage of HD, symptoms of chorea begin to appear. In the middle stage, movement disorders increased. Medication and physical and occupational therapy is recommended to treat chorea and address difficulties in speech and swallowing. In the late stage, the person with HD develops severe chorea, can no longer and speak and is totally dependent on
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Specifically, caudate and white matter volumes significantly varied with HD severity, serving as biomarker to detect stage of the disease. This correlation was found to be stronger in HD subject than control. As result, researchers proposed that white matter diffusion in HD is physiological response to caudate volume loss and is associated with disease burden score. The experiments identified this difference by studying the relationship between caudate and white matter between 17 pre-manifest and 19 early manifest carriers of the HD gene, and 21 controls using tract-based spatial statistics