Monitoring liver function and immune reactions, being alert to signs of a respiratory infection, and making sure that a child’s vaccination schedule does not interfere with necessary corticosteroid use are among the key health and safety requirements for families and doctors interested in using Zolgensma to treat a young spinal muscular…

Early intervention is crucial for the successful management of spinal muscular atrophy (SMA), according to the authors of a review study that discusses the progress made in newborn screening and treatment strategies for this disease. The review study, “Progress in treatment and newborn screening for Duchenne…

Researchers have developed a rapid, specific blood test to screen newborns for spinal muscular atrophy (SMA) and identify carriers — those who do not have the disease but can pass it on to their children. The study, “Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier…

MRC Holland has launched a newborn screening test, called SALSA MC002 SMA Newborn Screen, that uses a blood sample to detect a specific SMN1 gene alteration that underlies spinal muscular atrophy (SMA). The first in the company’s SALSA Melt Assay product line, this assay can reliably, quickly and…

Over the next 20 years, the number of Americans with spinal muscular atrophy (SMA) will rise from 10,000 to nearly 15,000 — and 8,000 of those living with SMA today will still be alive come 2038, predicts Kenneth Hobby, president of Cure SMA. The Chicago-based nonprofit has been working…

A large-scale study analyzing genetic screening for biomarkers associated with spinal muscular atrophy (SMA), cystic fibrosis (CF), and fragile X syndrome (FXS) adds new insights on the incidence of these genetic markers. The study, published in the journal Genetics in Medicine, also…

An Australian couple is still reeling from the devastating news that their 12-week-old daughter has spinal muscular atrophy (SMA) type 1. SMA is a rare genetic disease that until Mackenzie’s diagnosis, her parents had never heard of. MORE: Detecting SMA with carrier screening. According to a report in the…

A revved-up campaign to persuade the U.S. government to ask states to screen newborns for spinal muscular atrophy will be a hallmark of this year’s SMA Conference in Orlando. The agenda includes a symposium to train what the conference’s organizers call spinal muscular atrophy champions to push for newborn screening in their…

A recent survey showed that spinal muscular atrophy (SMA) patients and their families are generally supportive of genetic screening program for early detection of SMA. However, they still have a number of fears about the real outcome of the tests. These findings stressed the need of improved relations between those…

Starting in 2018, newborns in North Carolina will be able to undergo free screenings for genetic diseases. Although babies in America are tested for some genetic diseases, the screening doesn’t extend to all genetic disorders as the cost would be astronomical. Find out the answers to five of the most commonly asked…