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Research Article Open access CC BY 4.0

Huntingtons Disease: A Case Report

Khushbu Meshram, Tabbassum Sheikh, Pooja Kasturkar, Jaya Khandar, Shital Sakharkar, Prerana Sakharwade

Journal of Pharmaceutical Research International · pp. 30–34 · Published 30 Oct 2021

10.9734/jpri/2021/v33i47B33093

Abstract

Background: Huntington’s disease (HD) is a genetic neurodegenerative illness characterized by progressive nerve cell degeneration in the brain, mainly in the basal ganglia. It often manifests itself between the ages of 30 and 40. The disease is including inherited genetic genes, which means that the affected person inherits the gene from a parent who also has the same genes. In populations of western European origin, the incidence of inherited genetic diseases is 3-10 per 1,00000. In India, it is far less common. Case Presentation: This is a case of a 57 -year-old female schoolteacher who was brought to our institution with a trembling movement all over the body and imbalancing while walking. The clinical presentation of characteristics such as difficulty controlling his hands and fingers due to involuntary, uncontrolled motions is used to make the diagnosis He walked without a cane and seemed to be in good physical shape, yet when asked to sit, he slumps heavily into the chair. CT or MRI scans indicate lacunar ischemic foci in bilateral periventricular white matter. Mild cerebral and cerebellar atrophy was present. Complete blood testing were also carried out. Conclusion: There are currently few therapies available. The emergence of treatment methods capable of directly targeting HTT, on the other hand, signals a new phase in HD research. There is now more than ever a serious possibility of modifying and preventing HD.

Genetic disorders hereditary huntington disease huntington chorea neurodegenerative case report

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