Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed.
A semistructured questionnaire, completed by the interviewer, was used to assess understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes to prenatal diagnosis (PND).
Characteristic features of MD (muscle weakness and wasting and myotonia) were well known.
Knowledge of other features and complications reflected experience.
All subjects were aware that MD is inherited, but only 56% (14125) knew the risk to their own children and subjects tended to overestimate this risk.
Anticipation and maternal transmission of congenital myotonic dystrophy (CMD) were often misunderstood.
Almost half of the subjects (12/25) perceived themselves to be moderately or severely affected and 40% (10125) felt that their symptoms restricted daily life.
Feelings of devastation, depression, worry about the future, and guilt at the risk of transmission to their children were described.
Many subjects (10125) said that the worst aspect of MD is the risk of transmission to their children.
Over half (14/25) said that the risk of transmitting MD had influenced or would influence their own reproduction.
Three-quarters of subjects who felt that MD had influenced their reproductive decisions (9/12) chose to limit their family or have no children ; only 25% (3/12) requested PND. (...)
Mots-clés Pascal : Dystrophie myotonique, Homme, Femelle, Diagnostic, Prénatal, Conseil génétique, Position malade, Exploration, Opinion publique, Education santé, Reproduction, Prise décision, Facteur risque, Système nerveux pathologie, Neuromusculaire pathologie, Myotonie, Maladie héréditaire
Mots-clés Pascal anglais : Myotonic dystrophy, Human, Female, Diagnosis, Prenatal, Genetic counseling, Patient position, Exploration, Public opinion, Health education, Reproduction, Decision making, Risk factor, Nervous system diseases, Neuromuscular diseases, Myotonia, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0028804
Code Inist : 002B17H. Création : 31/05/1999.