For the past two years, my best friend and fellow columnist, Brianna Albers, and I held a tradition of collaborating with each other for SMA Awareness Month. We’ve written companion columns about the pros and cons of our respective countries (she lives in the U.S., while I’m…

Scientists have identified a key mechanism responsible for altered processing in the body’s SMN2 gene that, in people with spinal muscular atrophy (SMA), fails to make the needed SMN protein, new data show. The discovery centers on heterogeneous nuclear ribonucleoprotein R (hnRNPR), part 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…

The Committee for Medicinal Products for Human Use (CHMP) favors European Union (EU) approval of Evrysdi (risdiplam) being extended to cover babies with spinal muscular atrophy (SMA) younger than 2 months of age. The recommendation now will be reviewed by the European Commission, which is expected to issue…

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…

The older I get, the more easily I cry. It never used to be that way. I didn’t cry at movies. I definitely didn’t cry when I was happy. Crying was terrible, and I hated every second of it. Now I cry at the drop of a hat. Tense conversations…

A histone deacetylase (HDAC) enzyme inhibitor called AR42 was found to prolong survival and ease motor symptoms in a mouse model of spinal muscular atrophy (SMA). While scientists initially expected the experimental molecule to show benefits by helping to boost levels of the SMN protein that’s deficient in SMA,…

A growing number of young children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are gaining the ability to sit, stand, and walk, according to four-year data from the FIREFISH clinical trial. No new deaths have been reported since the study’s primary…

Add-on treatment with Scholar Rock‘s muscle-targeted therapy apitegromab continues to stabilize or improve motor function for young spinal muscular atrophy (SMA) types 2 and 3 patients who entered the study unable to walk, according to a three-year update from the TOPAZ clinical trial and its extension…