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1 Comprehensive Analysis and Management of Huntington's Disease in The Johnson Family Student Name Institution Course Date

2 Comprehensive Analysis and Management of Huntington's Disease in The Johnson Family Family Pedigree Chart Family Background The Johnson family lives in a suburban neighbourhood and must deal with the challenges of Huntington's disease (HD). Their lives have been profoundly affected by Mark's diagnosis of HD at the age of 40. Mark is the proband and is currently at 67 years of age. Despite coming from different ethnic backgrounds, the family remains close-knit. John died at 55 years from HD while his daughter and grandchildren are currently unaffected by Huntington's disease. Genetic Predisposition s The Johnson family is affected by the devastating neurodegenerative condition Huntington's disease (HD) which is the focal point of disease phenotypes in this family. The

3 early diagnosis of Mark at age 40 and John's premature death from complications related to HD highlight the family's genetic predisposition. This hereditary susceptibility to HD is a serious health risk that affects family members and shapes their experiences as a group. Patterns of Inheritance John seems to have inherited Huntington’s disease from his father since his mother, Lisa, was not affected. Since the rest of the family is not affected by the disease, it is safe to assume that the pattern of inheritance of Huntington’s disease in this family was from father to son. In autosomal dominant disorders, carriers usually exhibit the disease, in contrast to autosomal recessive conditions. Ethnic Predisposition s People with Huntington's disease (HD) could come from various racial and ethnic backgrounds, as shown by the Johnson family pedigree. About 5 to 10 cases per 100,000 people in the general population are affected by HD (Gatto et al., 2020) . Genetic variety may cause variations in the prevalence of HD, even if it is not linked to any particular racial or ethnic group. HD can strike people from a wide range of origins and therefore it is important to have genetic testing and risk- related counselling. Genetic Pathophysiology A hereditary mutation in the HTT gene on chromosome 4 is responsible for causing Huntington's disease in the Johnson family. A CAG trinucleotide repeat expands as a result of this mutation therefore resulting in the production of poisonous huntingtin protein (Parsons & Raymond, 2023) . Mutated protein building up in brain tissue eventually causes the neurons to malfunction and die. The pathophysiology of Huntington's disease (HD) includes motor symptoms, cognitive decline, and psychological disorders.

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4 Current Research Current research is being done to identify medicines to lessen the effects of HD. To identify the medicine, the research institute must get a deeper knowledge of the disease's genetic foundation. Researchers have continued to investigate whether the faulty HTT gene can be modified through gene-editing methods like CRISPR-Cas9 (Morelli et al., 2023) . According to Parsons & Raymond, (2023), with the continuing clinical studies for possible disease-modifying therapies, patients have hope for success. There has also been the discovery of other genetic variables that can affect the age at which HD begins. Disease Risk Huntington's disease carries a significant risk in the Johnson family because of its autosomal dominant inheritance pattern. Since the child of the proband, John inherits the defective gene, there is a 50% chance the later generation will also have the gene mutation and suffer HD. As stated by Morelli et al (2023) , children of an affected individual have a 50% chance of acquiring the mutant gene and getting HD. The probability is because it is inherited in an autosomal dominant manner. Management Plan In the Johnson family managing HD would involve an interdisciplinary approach to address the psychological, emotional, and physical difficulties related to the disease. To help people make decisions about their HD status, genetic counselling is provided after genetic testing. To treat the motor and cognitive symptoms, clinical recommendations offer therapy as well as routine neurologic and psychiatric assessments. In addition, accessing support groups is also critical for one to maintain emotional health and manage the effects of HD on family dynamics.

5 Reference Gatto, E. M., Rojas, N. G., Persi, G., Etcheverry, J. L., Cesarini, M. E., & Perandones, C. (2020). Huntington disease: Advances in the understanding of its mechanisms. Clinical Parkinsonism & Related Disorders , 3 , 100056 . https://doi.org/10.1016/j.prdoa.2020.100056 Morelli, K. H., Wu, Q., Gosztyla, M. L., Liu, H., Yao, M., Zhang, C., ... & Yeo, G. W. (2023). An RNA-targeting CRISPR–Cas13d system alleviates disease-related phenotypes in Huntington’s disease models. Nature Neuroscience , 26 (1), 27-38. Parsons, M. P., & Raymond, L. A. (2023). Huntington disease. In Neurobiology of brain disorders (pp. 275-292). Academic Press. https://doi.org/10.1016/B978-0-323-85654- 6.00042-3

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