Mariana Brito, MD, Receives an ANF Pediatric Research Award

Mariana Brito, MD, has received a Pediatric Research Award from the American Neuromuscular Foundation for her abstract on an area of Duchenne muscular dystrophy (DMD) that is not often explored. Though DMD is widely known as a disease that weakens muscles, Dr. Brito’s research reveals it also causes structural changes in the brain. “Our research focuses on understanding how Duchenne muscular dystrophy affects the brain,” she explained. “Using advanced brain imaging techniques, we found structural changes in the brain’s gray and white matter in individuals with DMD. These changes were mostly seen in areas responsible for higher-level thinking and information processing.”

Her clinical experience drove this exploration. “DMD is often approached as a condition that only affects muscles, but many patients also experience cognitive and behavioral challenges,” Dr. Brito said. “As a clinician and researcher, I often wondered how the absence of dystrophin affects the brain itself.” Her team’s most significant finding was the presence of abnormalities in associative brain regions, which play a crucial role in cognition. “This reinforces the idea that DMD is not only a muscular disease but also impacts brain structure, which has often been overlooked in clinical practice.” She hopes these and other insights from her work will lead to earlier interventions and improved quality of life for families affected by DMD. 

Dr. Brito reflected on the award, “It is a tremendous honor to receive this award. I am especially proud to represent Brazil. This recognition reinforces the importance of looking beyond the physical symptoms of neuromuscular diseases. It inspires me to continue advancing research and advocating for more comprehensive, multidisciplinary care for individuals with DMD.”

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