Duchenne and Becker Carrier Clinic

The Duchenne and Becker Carrier Clinic is one of the first-ever cardiovascular clinics dedicated to providing care for those with dystrophinopathy, a group of muscular dystrophy disorders caused by mutations in the dystrophin gene. These disorders affect the production of dystrophin, a protein essential for muscle function. The Duchenne and Becker Carrier Clinic’s mission is to provide the best possible multidisciplinary clinical care to people assigned female at birth who are suspected of being or have been diagnosed as carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

What are Duchenne and Becker muscular dystrophies?

Duchenne muscular dystrophy and Becker muscular dystrophy are genetic conditions that affect the dystrophin protein found in the muscle cells, leading to muscle weakness over time. It can affect the body’s muscles as well as the heart. People assigned male at birth can be affected at an early age. Those assigned female at birth may be affected, but typically with less frequency and with less severe symptoms.

Risks and impacts of dystrophinopathies on heart health

Carriers of Duchenne and Becker muscular dystrophy are people assigned female at birth who “carry” the dystrophin gene mutation in their X chromosome, identified either through genetic testing or based on their family history.

Individuals assigned female at birth may experience heart issues similar to those seen in individuals assigned male at birth with muscular dystrophy, such as cardiomyopathy or arrhythmias. Since symptoms can vary, carriers of DMD or BMD who were assigned female at birth should have regular heart evaluations.

Why choose the Duchenne and Becker Carrier Clinic?

The Penn Medicine Duchenne and Becker Carrier Clinic provides individualized cardiovascular care to identify and treat heart conditions that may be associated with carrier status. We also facilitate access to additional specialists across health disciplines when necessary.

Cardiologists, pulmonologists, neurologists, and social workers from our Center for Inherited Cardiovascular Disease work together to meet all of our patients’ medical, physical, and emotional needs surrounding their carrier status. We’re committed to raising community awareness, promoting education of these conditions, and advancing scientific knowledge and discovery for this group of patients.

Your care team at Penn Medicine

Our goal for your first visit is to understand which heart-related symptoms you’re experiencing, if any, and review cardiac and genetic testing you may have completed. We then determine a plan for comprehensive care, which might include connecting you to our partners in the neurology or pulmonology departments.

Our team is dedicated to delivering specialized and individualized care. Our cardiologists and advanced practitioners are experienced in screening for, diagnosing, and managing dystrophin cardiomyopathy and associated cardiac conditions.