The use of advanced genetic testing techniques helped clinicians in China to identify novel mutations in the SMN1 gene in two unrelated children — and thus correctly diagnose them with spinal muscular atrophy (SMA), according…
The muscle fibers of children with spinal muscular atrophy (SMA) type 1 are substantially different from those of age-matched peers early in life, a study found. Muscle fibers are the basic units of muscle tissue that contract to allow movement. The differences were evident in levels and types of components…
Infants with spinal muscular atrophy (SMA) who are presymptomatic and given the gene therapy Zolgensma in the first six weeks of life have better motor, respiratory, and nutritional outcomes, according to a recent study from Europe. However, researchers found functional motor scores still improved significantly, albeit less dramatically,…
Variations in more than a dozen genes related to inflammation, neurodevelopment, and oxidative stress associate with the severity of spinal muscular atrophy (SMA) and disease type, as well as person’s age at onset and their motor and lung function, researchers report. “Further exploration of these pathways offers a…
Children with spinal muscular atrophy (SMA) are at a higher risk of hospitalization due to respiratory tract infections, including those caused by the respiratory syncytial virus (RSV), a small, single-center study in Switzerland suggests. Although 1 in 4 hospitalizations was due to an RSV infection, all the children with…
Oral strength and endurance — important for functions like swallowing, speaking, and chewing — were found diminished in adults with spinal muscular atrophy (SMA) in three out of five assessments, according to a new study. In particular, untreated SMA type 2 patients who couldn’t walk had the most…
Treatment with Spinraza (nusinersen) can help make walking less tiring over time for ambulatory patients with spinal muscular atrophy (SMA), a study reported. The study, “Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen,” was published in Muscle and Nerve. SMA is…
Twin girls with spinal muscular atrophy (SMA) type 0 are still alive with normal motor function more than two years after treatment with Zolgensma (onasemnogene abeparvovec-xioi). This finding dramatically differs from the typical progression of SMA type 0, the rarest form of the disease, where symptoms…
Low bone mineral density (BMD), which leaves bones weak and prone to fractures, was found to be prevalent among children with spinal muscular atrophy (SMA) in China in a recent report. Older age, especially beyond a cut-off of 6.3 years, was associated with a higher likelihood of having low…
NIDO-361, Nido Biosciences’ experimental oral treatment for spinal and bulbar muscular atrophy (SBMA) — a disease type marked by progressive weakness in the muscles of the throat and mouth, and those closer to the trunk — has been granted orphan drug designation in the European Union. This designation,…
