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A team of scientists in Iowa have created a super minigene  — a small gene fragment used as a tool to study genetic manipulation — that recapitulates essential features of the natural SMN1 and SMN2 genes linked to spinal muscular atrophy (SMA) and its severity. One of the most…
Real-world treatment with Zolgensma (onasemnogene abeparvovec-xioi) was associated with motor and survival benefits for people with spinal muscular atrophy (SMA), data from the RESTORE patient registry shows. Greater motor improvements and a better safety profile were generally seen in those who’d been…
A young woman with spinal muscular atrophy (SMA) type 2 gave birth to a premature baby boy with the help of a multidisciplinary team despite having severe breathing problems, according to a report. The woman’s shortness of breath got worse during pregnancy and she…
Despite concerns about long-term efficacy and safety, gene therapy was the first choice treatment for most parents of children with spinal muscular atrophy (SMA), whether diagnosed via newborn genetic screening or symptoms, according to a new survey study. However, the amount and type of information parents received upon…
Difficulties with adequate nutrition and feeding persist among children and adolescents with spinal muscular atrophy (SMA) types 2 and 3 being treated with Spinraza (nusinersen), a Norwegian study reports. Important nutrients, such as protein, fiber, vitamins, and minerals, often were consumed in lower-than-recommended amounts by these patients,…
Looking forward to this new year of physical therapy with Michael, my patient who has spinal muscular atrophy, we will continue to work toward improving his functionality in the new wheelchair he began using last year. Even though we have been working in this chair for a few…
Researchers have developed a two-dimensional (2D) model that mimics the crosstalk between nerve and muscle cells. They intend to use it to screen large numbers of compounds in the hunt for treatments for spinal muscular atrophy (SMA) and other neuromuscular diseases. “We want to start by seeing if we…
About 43% of children with early-onset spinal muscular atrophy (SMA) were reported to have neurodevelopmental problems in a recent international survey of clinicians. Such issues, including intellectual disabilities, speech delays, or problems with social communication and interaction, have not historically been considered a key part of the disease presentation,…
Inhibiting an abnormally hyperactive protein called cyclin-dependent kinase 5 (Cdk5) significantly lessens the dysfunction and death of motor neurons, the cells lost in spinal muscular atrophy (SMA), a new study reports. These findings support Cdk5 as a potential therapeutic target for the progressive disease, researchers say. The study, “…
The Muscular Dystrophy Association (MDA) has chosen Ira Walker, a Florida resident living with spinal muscular atrophy (SMA) type 2, as this year’s national ambassador. In this new role, the 39-year-old Walker will share his story nationwide, with an aim of raising awareness of the MDA’s mission…
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