The Duchenne and Becker Carrier Clinic is one of the first-ever cardiovascular clinics dedicated to providing care for females with dystrophinopathy. Our mission is to provide the best possible multidisciplinary clinical care to female patients 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 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. Men can be affected at an early age. Women 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 females who "carry" the dystrophin gene mutation in their X chromosome, identified either through genetic testing or based on their family history.
Female carriers may experience heart conditions similar to males who have muscular dystrophy, including abnormalities of the heart muscle (i.e., cardiomyopathy) or abnormal heart rhythms (i.e., arrhythmias). There can be a wide range of symptoms that female carriers may or may not develop, so it is recommended that female carriers of DMD or BMD have their hearts evaluated.
Why Choose the Duchenne and Becker Carrier Clinic?
The 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 from our Center for Inherited Cardiovascular Disease, pulmonologists Jason Ackrivo, MD, MSCE and Michael M. Rey, MD, neurologists Lauren B. Elman, MD and Colin Quinn, MD, and social workers work together to meet all of our patients' medical, physical, and emotional needs surrounding their carrier status. We are committed to raising community awareness and promoting the education of these conditions and to 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 are experiencing, if any, and review cardiac and genetic testing you may have completed. We then determine a personalized plan for comprehensive care, which might include connecting you to our partners in the Neurology or Pulmonary departments.
Our team includes physicians, nurses, nurse practitioners, and genetic counselors dedicated to delivering specialized and individualized care for you. Our cardiologists and advanced practitioners are experienced in screening for, diagnosing, and managing dystrophin cardiomyopathy and associated cardiac conditions.
Make an Appointment
To make an appointment or learn more about the Duchenne and Becker Carrier Clinic, please call 215-615-0044 or email inheritedmusculardystrophyreferrals@pennmedicine.upenn.edu.