KNOWLEDGE, VIEWS, AND EXPERIENCE OF 25 WOMEN WITH MYOTONIC-DYSTROPHY

Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed. A semist ructured questionnaire, completed by the interviewer, was used to asse ss understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes to prenatal diagnosis (PND). Ch aracteristic features of MD (muscle weakness and wasting and myotonia) were well. known. Knowledge of other features and complications refle cted experience. All subjects were aware that MD is inherited, but onl y 56% (14/25) knew the risk to their own children and subjects tended to overestimate this risk. Anticipation and maternal transmission of c ongenital myotonic dystrophy (CMD) were often misunderstood. Almost ha lf of the subjects (12/25) perceived themselves to be moderately or se verely affected and 40% (10/25) felt that their symptoms restricted da ily life. Feelings of devastation, depression, worry about the future, and guilt at the risk of transmission to their children mere describe d. Many subjects (10/25) said that the worst aspect of MD is the risk of transmission to their children. Over half (14/25) said that the ris k of transmitting MD had influenced or would influence their own repro duction. Three-quarters of subjects who felt that MD had influenced th eir reproductive decisions (9/12) chose to limit their family or have no children; only 25% (3/12) requested PND. Subjects felt that the lac k of information concerning clinical severity made PND for MD difficul t to consider.