A panel of experts has developed a new treatment algorithm for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening, a study reports. Such newborn screens are vital because outcomes for SMA improve dramatically if therapy begins within the first few days of life, the…

For the new year, Cure SMA is stepping up its efforts to get states not testing for spinal muscular atrophy (SMA) at birth to implement the practice — noting that such newborn screenings could dramatically improve patients’ quality of life. Some 17 states began newborn screenings for SMA…

Levels of the survival motor neuron (SMN) protein — which are significantly low in spinal muscular atrophy (SMA) patients — naturally rise during gestation and then fall in the three months before and after birth, highlighting a critical window for treating SMA that runs up to the first three months of…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Screening newborns for genetic diseases for which treatments exist that can prevent crippling or deadly progression, especially for rare disorders like spinal muscular atrophy, has a way to go in the United States. Only seven states require this disease to be among the dozens tested from a blood sample…

[Editor’s Note: In the conclusion of this two-part interview with the Lackey family of Arizona about their daughter’s treatment with Zolgensma at 6 weeks old, we look at treatment day, advice they have to make it easier, and the family’s decision to advocate for screening newborns for SMA.] Samantha…

[Editor’s note: This is the fifth in a series of articles on Zolgensma and treatments for SMA, the issues they raise, and possible discoveries to come, all drawn from recent interviews with neurologists and researchers involved in this work. Others in this series can be found here. SMA News…

Five states — Missouri, Minnesota, New York, Pennsylvania and Utah — now routinely screen newborn babies for spinal muscular atrophy (SMA), while another 13 have passed laws either requiring such screening or are in the process of doing so. Pennyslvania began testing infants for the neuromuscular disease on March 1,…

ArcherDX is expanding its product portfolio with newborn and screening tests to identify carriers of genetic variants linked to different disorders, including cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. The company has acquired the genetics-based personalized medicine laboratory Baby Genes, which will operate under…

When Megan Cardenas and her husband brought their 10-day-old son, Derek, to be screened for spinal muscular atrophy (SMA), the doctor told them their baby was simply lazy. The infant might not be meeting early milestones, but he could roll over when placed on his side — something babies…