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Published on: March 22, 2016
Learning to live at risk for Huntington's disease
1Department of Neurology, Bowman Gray School of Medicine, Winston-Salem, North Carolina 27103.
Insights
Huntington's disease (HD) is an inherited neurological disorder. This overview covers HD history, symptoms, diagnosis, and treatment, addressing the psychological impact on at-risk individuals.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Huntington's disease (HD) is an autosomal dominant inherited disorder affecting the central nervous system.
- Offspring of an affected parent have a 50% risk of inheriting the disease.
Observation:
- Progressive symptoms include chorea, dystonia, incoordination, and cognitive decline.
- Individuals at risk often experience significant fear due to witnessing parental deterioration.
Findings:
- The article outlines diagnostic procedures, current treatment options, and prognosis for Huntington's disease.
- It emphasizes the psychological burden and decision-making challenges faced by those at risk.
Implications:
- Addressing the psychological impact is crucial for individuals and families affected by Huntington's disease.
- Maintaining a positive outlook and making informed life choices are vital for managing the condition's challenges.
Abstract:
Huntington's disease (HD) is an autosomal dominant inherited disorder of the central nervous system. Consequently, a child of an affected parent has a 50% risk of developing the disease. This article provides an overview of HD by providing a brief history of the disease and describing progressive symptoms of chorea, dystonia, incoordination and decreased mental acuity. Steps in diagnosis, treatment and prognosis are outlined. Because persons at risk for HD have usually witnessed the deterioration of an HD parent, they are often dominated by fears of developing HD themselves. Life's choices, such as whether or not to have children, then become dilemmas. The importance of maintaining a positive life perspective, while making practical choices about employment, marriage, children and other concerns needs to be addressed.
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