Care of Dystrophinopathy Carriers: Survey Results of Provider Practices in the United States
Mena Scavina1, Kayla Banks1, Ryan Cappa2, Chelsea Chambers2
1Parent Project Muscular Dystrophy, 2University of Virginia, Dept of Neurology
Objective:
We set out to understand how neurologists and other providers in the United States are currently caring for women identified as dystrophinopathy carriers. Here we provide results of the first survey of U.S. providers regarding their views and approach to care.
Background:
Genetic testing and cardiology referral are the recommendations, currently outlined in the 2018 Duchenne Care Guidelines, when a woman’s child has been diagnosed with Duchenne/Becker muscular dystrophy. Currently there are no standards of care or guidelines regarding additional recommendations for women identified as dystrophinopathy carriers.
Design/Methods:
A Qualtrix survey was distributed to members of the National Society of Genetic Counselors, Parent Project Muscular Dystrophy’s Certified Duchenne Care Center (CDCC) network, and it was listed on the American Academy of Neurology website. Questions ranged from initial genetic testing to care practices and recommendations. The survey was approved by the University of Virginia and Geisinger IRBs.
Results:
Our results indicate care for carriers is varied, with responses representing a variety of ages for recommending testing and referring to cardiology. Discordance was also noted in the most appropriate terminology for symptomatic DMD heterozygotes. Thematic analysis identified common concerns in testing minors including patient understanding and autonomy, while waiting for adulthood to test brought about concerns regarding reproduction and symptom onset prior to initiation of monitoring. The majority of providers also did not screen for or address learning and mental health issues.
Conclusions:
Practices vary amongst providers, and standards of care or guidelines for dystrophinopathy carriers are not currently available. The need for natural history studies documenting the spectrum of involvement of carriers, along with treatment options and response to therapy, are needed to better inform providers on best practices.
This abstract was previously presented as a Virtual Poster at the 2025 World Muscle Society Congress.
Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.