好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Care of Dystrophinopathy Carriers: Survey Results of Provider Practices in the United States
Neuromuscular and Clinical Neurophysiology (EMG)
P8 - Poster Session 8 (11:45 AM-12:45 PM)
9-007

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.   

 
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.
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 好色先生 website. Questions ranged from initial genetic testing to care practices and recommendations. The survey was approved by the University of Virginia and Geisinger IRBs.
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.

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.
Authors/Disclosures
Mena Scavina, DO (Nemours Children's Health, Delaware)
PRESENTER 		The institution of Dr. Scavina has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Pfizer. Dr. Scavina has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant with Parent Project Muscular Dystrophy.
Kayla Banks, MS, CGC Mrs. Banks has received personal compensation for serving as an employee of Parent Project Muscular Dystrophy. Mrs. Banks has received personal compensation in the range of $0-$499 for serving as a one-time speaker with Texas Society of Genetic Counselors.
Ryan Cappa, MD (University of Virginia, Dept of Neurology) Dr. Cappa has received personal compensation in the range of $0-$499 for serving as an Expert Witness for iMPRove.
Christina D. Chambers, PhD Dr. Chambers has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Birth Defects Research - The Publisher Wiley. The institution of Dr. Chambers has received research support from Amgen. The institution of Dr. Chambers has received research support from AstraZeneca. The institution of Dr. Chambers has received research support from GlaxoSmithKline. The institution of Dr. Chambers has received research support from Janssen Pharmaceuticals. The institution of Dr. Chambers has received research support from Pfizer, Inc. The institution of Dr. Chambers has received research support from Regeneron. The institution of Dr. Chambers has received research support from Hoffman La-Roche-Genentech. The institution of Dr. Chambers has received research support from Genzyme Sanofi-Aventis. The institution of Dr. Chambers has received research support from Takeda Pharmaceutical Company Limited. The institution of Dr. Chambers has received research support from Sanofi. The institution of Dr. Chambers has received research support from UCB Pharma, USA. The institution of Dr. Chambers has received research support from Leo Pharma. The institution of Dr. Chambers has received research support from Sun Pharma Global FZE. The institution of Dr. Chambers has received research support from Gilead. The institution of Dr. Chambers has received research support from Novartis. The institution of Dr. Chambers has received research support from the Gerber Foundation. The institution of Dr. Chambers has received research support from NIH.