Female Carriers

What is a female carrier? A carrier is a person who carries a genetic mutation in their genes. This mutation can be passed on to their children. In Duchenne, only females can be carriers because the mutation is located on the X chromosome. This means that while Duchenne is primarily found in males, it can affect females as well.

Understanding what it means to carry a genetic mutation can be confusing and often difficult to navigate. We created this helpful guide of empowering resources so carriers in our community can better advocate for themselves and their families. If you have any questions or need additional support, please reach out to us, and we will be happy to help in any way we can.

Support Groups

Porch Nite

A support group for moms of individuals living with Duchenne to connect about their journey, spread love, offer support, and more.

Carrier Conversations

Jett Foundation’s monthly virtual support group for women in the Duchenne community who are carriers of Duchenne muscular dystrophy (whether they are manifesting or not).

Caregiver Connextion

A support group for parents, family members or caregivers of females who have been diagnosed with Duchenne or are symptomatic carriers.

Resources for Female Carriers

Action Duchenne

A Leaflet for Women Who Know They Are, or Who Think They May Be, a Carrier for Duchenne or the Milder Form of Becker.

Defeat Duchenne

Cardiac Care of Children with Dystrophinopathy and Females Carrying DMD-Gene Variations.

Jett Foundation

Jett Foundation’s Women in Duchenne Panel discussion recorded on World Duchenne Awareness Day 2022.

Jett Foundation

The Journey to Diagnosis and Next Steps for Female Carriers

Penn Medicine

Center for Inherited Cardiovascular Disease

Rare Disease Advisor

Article: Female Carriers of Duchenne Urged to Seek Early Treatment for Heart Problems

ScienceDirect

Duchenne and Becker Carriers: Evidence of Cardiomyopathy by Exercise and Cardiac MRI Testing

UMass Chan Medical

The Duchenne Program – UMass Clinical Care – includes Females with Dystrophinopathy

World Duchenne Organization

World Duchenne Organization’s WDAD Educational Event: Women and Duchenne

Physicians Who Treat Female Carriers

Resources from Parent Project Muscular Dystrophy

Pat Chats: Dr. Teresa Wang (UPenn) Discusses the Duchenne and Becker Carrier Clinic Pilot

First Results from PPMD/ Nationwide Carrier Study: Evidence of Cardiomyopathy by Exercise & Cardiac MRI

Carrier Archives: view all PPMD’s recent materials and events pertaining to female carriers.

Genetic Testing: Decode Duchenne Program

Meet Trina, Jett Foundation Resource Specialist

Trina was born and raised in a small, rural town in South Louisiana. Two of her three children are impacted by Duchenne. Trina brings a unique perspective to her new position as a mom and caregiver, but also as a patient having been diagnosed as a manifesting carrier/female with dystrophinopathy. As Jett Foundation’s Resource Specialist for Females in Duchenne, Trina will is responsible for managing Jett Foundation’s relationships with females impacted by Duchenne in the community. Her role assists in connecting women with resources and support as well as coordinating programs and events focused for this demographic within our Duchenne community.

Latest Duchenne News

May 20, 2024
On May 20, 2024, PTC Therapeutics announced that the European Commission (EC) has decided not to adopt the CHMP’s negative opinion of January 24, 2024 on the annual renewal of...
May 20, 2024
On Monday, May 20, Dyne Therapeutics announced positive clinical data from its ongoing Phase 1/2 ACHIEVE trial of DYNE-101 in patients with myotonic dystrophy type 1 and its ongoing Phase...
May 10, 2024
REGENXBIO shares financial results for the first quarter ending March 31, 2024.

 

SPONSORS

Thank you to our generous sponsors for helping us provide these resources for our community.