The Taiwanese health authorities have launched a newborn screening program for Duchenne muscular dystrophy (DMD) starting with the region of Taipei. Approximately 50,000 newborns have been tested since February 2021 using a CPK assay performed on blotters in the first days of life. In case of a positive result, a NGS (next-generation sequencing) study was requested. From the analysis of the results, it appears that :
- CPKs clearly tend to normalize after a few days or weeks,
- the genetic study in NGS allowed to formally confirm a DMD in three children,
- the calculated incidence (1:8710 male births) is therefore very low compared to the theoretical incidence (1:3500).
