title: The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests.
abstract: The Charcot-Marie-Tooth group of disorders cause significant morbidity in a proportion of the individuals affected. We have shown that there is a significant correlation between the objective neurological assessment of their dysfunction and the individual's subjective perception of their disability. We have also documented the observation that individuals expressing an intention to use prenatal DNA diagnostic services and terminate an "affected" fetus are more severely affected by their disorder than those who would not, or who were unsure about their use of molecular genetic testing.
authors.affiliation: Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: MacMillan
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D001294:Attitude to Health; D002607:Charcot-Marie-Tooth Disease / Q000523:psychology*; D016009:Chi-Square Distribution; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis / Q000523:psychology*; D012044:Regression Analysis