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P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:
Results from Early Check*
Kucera, K., Boyea, M. B., Migliore, B., Robles, V., Cope, H., Rehder, C., Smith, E., Bailey, D., & Peay, H. (2023). P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check*. Genetics in Medicine Open, 1(1 suppl), 100544. https://doi.org/10.1016/j.gimo.2023.100544
Duchenne muscular dystrophy (DMD) is a rare, X-linked condition caused by pathogenic variants in the DMD gene. Hemizygous pathogenic variants in males result in progressive muscle damage. DMD affects about 1 in 5,000 live male births. Manifesting females are rare. In the United States, the average age at DMD diagnosis is 5 years, though symptoms may appear much earlier. Universal newborn screening (NBS) for DMD would prevent the diagnostic odyssey, provide valuable information for family planning, and enhance equal access to interventions and therapies that offer the greatest promise to patients when administrated early in life. The available and emerging treatment options for DMD and the recently developed FDA-approved NBS assay for creatine kinase -MM (CK-MM), a secondary marker of muscle damage, position DMD as a candidate condition for addition to NBS panels. In anticipation of DMD nomination for public health NBS in the United States, we implemented a DMD pilot. We report on two years of prospective screening for DMD as a part of Early Check.
