This Is Due February 19 2018 Before 1159 Pm Central Time Pleasechoos This activity requires selecting five diseases from Chapter 5 and creating a condition table for each. You may use your textbook as the primary source of information. If you utilize additional sources, you need to mention them. The table should include a brief description of each disease, including its etiology, associated signs and symptoms, useful diagnostic tools, treatment options, and prevention strategies. The five diseases selected are Huntington's Disease, Polydactyly, Achondroplasia, Marfan syndrome, and Familial hypercholesterolemia.
Paper For Above instruction Introduction Genetic diseases encompass a broad spectrum of conditions caused by abnormalities in the genome. These disorders can be hereditary or acquired and often present with distinctive clinical features that aid in their diagnosis and management. In this paper, five genetic diseases from Chapter 5 are examined comprehensively, focusing on their etiology, signs and symptoms, diagnostic tools, treatment options, and prevention strategies. 1. Huntington's Disease Etiology: Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by an autosomal dominant mutation involving an expanded CAG trinucleotide repeat in the HTT gene located on chromosome 4. The abnormal repeat leads to a toxic gain of function, resulting in neuronal degeneration. Signs and Symptoms: HD typically manifests in adulthood with a triad of cognitive decline, psychiatric disturbances, and motor symptoms such as chorea (involuntary jerky movements), dystonia, and impaired coordination. Diagnostic Tools: Diagnosis involves clinical examination supported by genetic testing for CAG repeat expansion. Brain imaging (MRI or CT) can reveal atrophy of the caudate nucleus and cerebral cortex. Treatment Options: