diagnosis

Digital PCR for SMA diagnosis faster, less costly than set methods

Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less…

Infant gets SMA diagnosis along with Down syndrome: Case study

An infant was diagnosed with Down syndrome coexisting with spinal muscular atrophy (SMA) type 1, a case study reported. “The coexistence of [Down syndrome] and SMA poses unique challenges due to overlapping clinical features,” the researchers wrote in the case study, “A Rare Genetic Intersection:…

26 newborns diagnosed with SMA in Russia through pilot program

Twenty-six children were diagnosed with spinal muscular atrophy (SMA) in Russia through a 2022 pilot program, out of nearly 203,000 newborns who were screened for the rare genetic disease. That’s according to a study, “Epidemiology of Spinal Muscular Atrophy Based on the Results of a…