Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.

ABSTRACT: Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing. Of the 182 eligible respondents, 25% did not know their carrier status and 14% incorrectly classified themselves as not at risk. Cost of testing was the most commonly identified barrier to testing. Women reporting unknown carrier status were 13 times as likely to express uncertainty

SUBMITTER: Bogue L 

PROVIDER: S-EPMC5154916 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature