Ep. 62: Carriers of Duchenne with Dr. Mena Scavina

*This month in partnership with ⁠⁠⁠⁠PPMD⁠⁠* Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring Duchenne muscular dystrophy (DMD). Duchenne is an X-linked disorder characterized by progressive muscle weakening and is one of the most common life-limiting genetic conditions diagnosed in childhood. It is caused by a mutation in the DMD gene, which typically functions to produce a protein critical for muscle structure and function known as dystrophin. In individuals with Duchenne, this protein is absent, leading to the degeneration of muscle fibers over time and progressive muscle weakening. Duchenne is a multi-systemic condition, which means it affects many parts of the body including the heart and respiratory muscles, contributing to cardiology and breathing-related complications. Females carriers are usually not affected with Duchenne or Becker because they make enough of the dystrophin protein. However, they can have some symptoms of Duchenne, such as changes to heart function, mild muscle weakness, fatigue, or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy. The term “manifesting carrier” is often used to describe a woman who has some of the symptoms of a male with Duchenne. Carrier females have an increased chance of changes to heart function. Because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers to have regular heart evaluations, beginning in their late teens/early adult years and, if normal, repeated every 3-5 years. Today, we are featuring Dr. Mena Scavina. Dr. Mena Scavina is Professor of Pediatrics and Neurology at Thomas Jefferson University and neurologist in the Division of Neurology at Nemours Children’s Health, Delaware (retired). She completed her residency in Neurology at Thomas Jefferson University Hospital followed by an MDA Research Fellowship at the Children's Hospital of Philadelphia, and a clinical fellowship in neuromuscular diseases at Nemours. She was Director of the Neuromuscular Program at Nemours, Co-Director of the MDA Certified Center since 1997 and Director of the Parent Project Muscular Dystrophy Certified Duchenne Care Center since 2017 when the clinic was certified. Dr. Scavina is a consultant for Parent Project Muscular Dystrophy and has been involved with the Certified Duchenne Care Center (CDCC) program, certifying centers throughout the country. One of her interests is in the care of carriers of Duchenne and Becker muscular dystrophy and has been involved with the development of the Duchenne and Becker Carrier Clinic in conjunction with PPMD and cardiologists at the Penn Center for Inherited Cardiovascular Disease in Philadelphia. She is certified by the American Board of Psychiatry and Neurology and a member of the American Academy of Neurology. RESOURCES: PPMD Website and section on Carriers Decode Duchenne Information PPMD Registry information Penn Medicine Duchenne and Becker Carrier Clinic PPMD Lighthouse Workshops If individuals are interested in learning more about the Monthly Virtual Carrier Meeting, they can contact [email protected]. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠.