What is the unique nature of the Huntington’s Disease?

Obrazek miniatury
Bartoszek, Adrian
Szalast, Kamil
Tytuł czasopisma
Tytuł tomu
Wydawnictwo Uniwersytetu Rzeszowskiego
Introduction. Huntington’s disease is a rare neurodegenerative disease, inherited in an autosomal dominant manner. Every child in the family whose parent is a carrier of the mutant gene has a 50% risk of inheriting the disease. Genetic tests unambiguously confirm whether a person at risk is ill or not. Symptoms include movement, neuropsychiatric and cognitive disorders. Currently, the disease is incurable and there are no effective methods for its treatment. Aim. The aim is to present information about Huntington’s disease, its inheritance, symptoms and pathologies, as well as to draw attention to its unique impact on patients and their families. Material and methods. A literature review of the following databases has been conducted: PubMed, Science Direct, EBSCO, Springer Link. Results. Huntington’s disease, due to the autosomal dominant inheritance, disturbs the whole family system. Over several generations, a family can struggle with the problems of taking care of several patients at the same time, providing children with information about the risk of falling ill, making decisions about genetic testing, and starting a family or having children. Conclusion. Huntington’s disease is a challenge for healthcare professionals who are not always prepared to solve unique, multi-generational problems in families with Huntington’s disease.
Słowa kluczowe
CAG repeat , chorea , family system , genetic disease , HD gene
European Journal of Clinical and Experimental Medicine T. 17, z. 2 (2019), s. 169–174