Essay on Evaluation and Management of Huntington's Disease

Essay on Evaluation and Management of Huntington's Disease

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INTRODUCTION
Huntington’s Disease (HD) is a genetically transferred, progressive neurodegenerative disease that is caused by a defect on chromosome 4. The chromosomal defect is inherited through an autosomal dominant gene and causes a cytosine-adenenine-guanine (CAG) repeat to occur more often than expected. This codes for an abnormality in the protein huntingtin. When huntingtin has mutated, cells are not able to carry out their functions, leading to neuronal death(1). This death causes motor, psychiatric and cognitive abnormalities, which completes the triad of symptoms that are typical of HD.
CLINICAL PRESENTATION
HD has characteristic signs and symptoms that form a stereotypical clinical presentation. The typical with HD is of European descent and between 30-50 years old. Symptoms are divided into three categories: motor, psychiatric and cognitive. The motor abnormalities, or chorea, fall onto a spectrum of severity. Initially, they may consist of small restless movements. Eventually, involuntary choreoathetoid movements of the extremities, head and face are apparent. These movements are the hallmark of HD and lead to extreme disability.
While the chorea may be the most striking feature of HD, psychiatric and behavioral disturbances are generally the first to present, occurring decades before movement abnormalities are noted(2). These consist of depression, anxiety, irritability and extreme anger. Psychotic disturbances can also be problematic for these patients.
Cognitive decline will also affect patients with HD. They experience defects in memory, judgment and reasoning along with a decreased ability to plan and organize. Studies have shown that tracking motor planning/speed and sensory-perceptual proce...


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...ase. CNS Neurosci Ther 2011 Dec;17(6):705–13.
16. Barker RA, Mason SL, Harrower TP, Swain RA, Ho AK, Sahakian BJ, et al. The long-term safety and efficacy of bilateral transplantation of human fetal striatal tissue in patients with mild to moderate Huntington’s disease. J Neurol Neurosurg Psychiatry 2013 Jun;84(6):657–65.
17. Handley OJ, Naji JJ, Dunnett SB, Rosser AE. Pharmaceutical, cellular and genetic therapies for Huntington’s disease. Clin Sci Lond Engl 1979 2006 Jan;110(1):73–88.

Key Clinical Recommendation Strength of Recommendation References
Tetrabenazine is recommended in HD patients to provide symptomatic relief for chorea A 8,9,10
Neurorehabilitation is recommended to delay chorea and improve ADL skills. B 14
The use of HD-specific scales such as the SCL-90-R, UHDRS and H-QoL-I are recommended to evaluate the severity of the disease A 4, 5, 7


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