Patient's mom hopes research will lead to cure for Duchenne muscular dystrophy - Cincinnati Children's Blog

Patient’s mom hopes research will lead to cure for Duchenne muscular dystrophy

Erica “Ric” Muskopf says she hopes research will someday change the outcome for patients like her son, Brody.

Watch Erica “Ric” Muskopf talk about her hopes for a cure for Duchenne muscular dystrophy.

Brody was born with Duchenne muscular dystrophy, a disease that attacks his muscles. Without a cure, it will eventually destroy his heart and lungs.

The genetic disease affects about 1 in 3,500 boys. It is one of the most common forms of muscular dystrophy. A defective gene causes muscles to produce abnormally low levels of a protein called dystrophin, and weakness of the heart, called cardiomyopathy, happens by the time patients are 18. Patients with Duchenne muscular dystrophy typically need wheelchairs to get around by the time they are teenagers, and their life expectancy depends on how aggressively the muscle weakness progresses. Treatment, such as physical therapy, focuses on improving their quality of life.

Researchers at Cincinnati Children’s are working on ways to improve treatment and prolong life for boys who suffer from it. Scientists have begun a clinical trial to find out whether earlier treatment could stop or slow down heart damage associated with the disease. Research suggests an anti-fibrosis drug long used to treat heart attack victims could help these patients.

While Brody is not part of this clinical trial, his mom says she hopes research helps lead to a cure. In the meantime, she says, she’s thankful for each day she spends with Brody.

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Tanya Leach

About the Author: Tanya Leach

Tanya Bricking Leach is a writer and video producer at Cincinnati Children's and a former newspaper reporter who has covered crime for The Cincinnati Enquirer, sports for USA Today, island life for The Honolulu Advertiser, food for The Associated Press and stories about storms and surfers for the New York Times. Tanya is the author of the military-themed travel guide "Hawaii for Heroes." She is married to a military veteran and is the mother of two young boys. When she's not wired in at work, she enjoys unplugging with her family on their sailboat.

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