Topic 6 DQ2: Huntington’s Disease (Huntington Disease-Nursing Paper Examples)
Huntington’s disease is a genetically inherited condition that manifests mostly in adulthood. It causes gradual deterioration of brain neurons, making it challenging for the brain to control voluntary movements (Langbehn et al., 2019). Furthermore, the patients exhibit chorea and abnormal body postures, including behavioral, emotional, and thinking problems (Huntington Disease-Nursing Paper Examples).
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The disease can be diagnosed through various processes, such as neurological examinations, which involve assessing motor, sensory, and mental health problems like mood changes. Besides, Cavallo et al. (2022) observe that Huntington’s disease remain assessed through neuropsychological tests, such as memory, reasoning, and language skills assessment, including quality of judgment and coping skills (Huntington Disease-Nursing Paper Examples).
Additionally, doctors can perform magnetic resonance imaging (MRI) to determine brain structure, whereby lactate elevations in the occipital cortex and basal ganglia can signify the presence of Huntington’s disease (Kinnunen et al., 2021). Lastly, Tabrizi et al. Consequently, (2020) explain that genetic testing can comprehensively confirm the presence of mutated HTT genes causing Huntington’s disease. Genetic tests remain used in analyzing DNA for potential CAG repetitions, such that repetitions of more than 36 can contribute to HTT mutations, resulting in Huntington’s disease (Huntington Disease-Nursing Paper Examples).
The chorea symptom of the disease can be treated using tetrabenazine. Also, antipsychotic drugs like Haldol are prescribed for depression anxiety treatment. Moreover, these medications reduce the mental effects of the disease (Patrick & Ritchie, 2020). Besides, physical therapy, such as aerobic exercise, also remains recommended for improving movement patterns. Significantly, It improves stamina, strength, and balance (Quinn et al., 2020) (Huntington Disease-Nursing Paper Examples).
Notably, the risk of heredity for Huntington’s disease increases for individuals with more than 36 CAG repetitions. Consequently, individuals with 28-35 repetitions can carry the disease, passing it to their offspring (Langbehn et al., 2019). Moreover, the disease is an autosomal dominant disorder, such that the children of a carrier have a 50% chance of inheriting the disease. In most cases, the disease symptoms manifest earlier in each new generation compared to the previous one (Huntington Disease-Nursing Paper Examples).
References
Cavallo, M., Sergi, A., & Pagani, M. (2022). Cognitive and social cognition deficits in Huntington’s disease differ between the prodromal and the manifest stages of the condition: A scoping review of recent evidence. British Journal of Clinical Psychology, 61(2), 214-241. https://doi.org/10.1111/bjc.12337
Kinnunen, K. M., Schwarz, A. J., Turner, E. C., Pustina, D., Gantman, E. C., Gordon, M. F., … & Huntington’s Disease Regulatory Science Consortium (HD-RSC). (2021). Volumetric MRI-based biomarkers in Huntington’s disease: An evidentiary review. Frontiers in Neurology, 12, 712555. https://doi.org/10.3389/fneur.2021.712555
Langbehn, D. R., Stout, J. C., Gregory, S., Mills, J. A., Durr, A., Leavitt, B. R., … & Tabrizi, S. J. (2019). Association of CAG repeats with long-term progression in Huntington disease. JAMA Neurology, 76(11), 1375-1385. Doi:10.1001/jamaneurol.2019.2368
Patrick, C., & Ritchie, S. (2020). Managing the symptoms of Huntington’s disease. Prescriber, 31(2), 23-27. https://doi.org/10.1002/psb.1824
Quinn, L., Kegelmeyer, D., Kloos, A., Rao, A. K., Busse, M., & Fritz, N. E. (2020). Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology, 94(5), 217-228. https://doi.org/10.1212/WNL.0000000000008887
Tabrizi, S. J., Flower, M. D., Ross, C. A., & Wild, E. J. (2020). Huntington disease: New insights into molecular pathogenesis and therapeutic opportunities. Nature Reviews Neurology, 16(10), 529-546. https://doi.org/10.1038/s41582-020-0389-4