What is it about?

This study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington’s disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH).

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Why is it important?

It was in the subjects’ metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease.

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This page is a summary of: Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations, Journal of Genetic Counseling, May 2015, Springer Science + Business Media,
DOI: 10.1007/s10897-015-9846-4.
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