Adults with spinal muscular atrophy (SMA) experience more health problems affecting a range of bodily systems compared with the general population, according to a U.S. healthcare claims analysis. A total of 30 conditions examined in the study, many of which are associated with older age in the general population,…

Note: This article was updated Sept. 25 to clarify that respiratory declines were observed in patients with SMA types 2 and 3 and that the type of blood clots observed in Evrysdi-treated patients were deep vein thromboses. Evrysdi (risdiplam) safely stabilizes or improves motor function for most people…

Newborn screening might not be able to detect certain rare genetic mutations that cause spinal muscular atrophy (SMA), according to a case report that recommends doctors be aware of potential false-negatives in screening and know how to spot the typical symptoms of the disease. Researchers describe the case of…

Even though Ukraine has been at war for more than a year, a newborn screening program for spinal muscular atrophy (SMA) was launched late last year — and so far the program has successfully tested tens of thousands of babies, providing early diagnoses for nearly a dozen infants. A…

For caregivers of children with spinal muscular atrophy (SMA), the availability of new disease-modifying treatments has offered hope — but difficulties in accessing these therapies and uncertainty about their long-term effectiveness also have fostered frustration and anxiety. That’s according to a new qualitative study, done in Canada, that aimed…

Children with spinal muscular atrophy (SMA) experience impaired health-related quality of life even when using disease-modifying therapies, according to a recent Swedish study. Still, over time on treatment, some patients experienced life quality gains, particularly those with SMA type 2. These improvements were largely related to improved…

Researchers have developed new patient-derived cell models of spinal muscular atrophy (SMA) caused by SMN1 mutations as well as the more rare spinal muscular atrophy with respiratory distress type 1 (SMARD1). The cells exhibited structural abnormalities consistent with SMA which could be rescued with gene therapies. Scientists believe the new…

Current therapeutic approaches have helped to improve motor function in the majority of children with spinal muscular atrophy (SMA) type 1 in Spain, a study reports. The study, “Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children:…

The adoption of a newborn screening (NBS) program for spinal muscular atrophy (SMA) in England would reduce healthcare costs and boost the number of healthy years a patient can live, according to a recent cost-effectiveness analysis. Researchers believe such a program could capture most cases of SMA in the…