ArticleNeuromuscular disorders : NMD2016
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Article in Neuromuscular disorders : NMD, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Living in a genetic penumbra: navigating uncertainty and morality.Journal of community genetics · 2026Article
- From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.Computational and structural biotechnology journal · 2025Article
- Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.Journal of community genetics · 2024Article
- Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.Current cardiology reviews · 2024Review
- A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.Journal of assisted reproduction and genetics · 2022Article
- Mutation spectrum analysis ofF1000Research · 2022Article
- Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.Internal medicine (Tokyo, Japan) · 2018Article
- Duchenne Muscular Dystrophy: A Practice Update.Indian journal of pediatrics · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
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 regarding their recurrence risk compared to women reporting positive carrier status. 37% of women at an increased risk for cardiomyopathy had never had an echocardiogram. Women who were certain of their positive carrier status were twice as likely to have had an echocardiogram in the last five years compared to women with unknown carrier status. Future research on reducing barriers to counseling and carrier testing, such as cost, may improve care standard adherence.
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Registered trials
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