News

Targeted next generation sequencing (NGS) — a powerful genetic method that can identify mutations in several genes simultaneously — is superior to two commonly used genetic tests for the screening of spinal muscular atrophy (SMA), a study shows. These findings highlight targeted NGS as a reliable and promising approach…

Caregivers of children with spinal muscular atrophy (SMA) said they need information about institutions that may benefit their child in the future, a questionnaire-based study suggested. Although caregivers’ burden was not directly related to income or disease type, increased burden was disease-related, the scientists said. The study, “…

An adolescent male with spinal muscular atrophy (SMA) receiving tube feeding and antibiotics developed a problem with blood clotting due to a deficiency in vitamin K, a case study reported. “This case highlights that nutritional vitamin K deficiency should be considered in complex chronic pediatric patients whose nutritional needs…

Despite its well-reported benefits in motor function, Spinraza (nusinersen) may not be as effective at preventing or easing nonmotor complications, such as facial deformities, feeding problems, and scoliosis, in children with spinal muscular atrophy (SMA) type 1. Given that all these complications may affect the child’s lung function…

Motor neurons derived from people with spinal muscular atrophy (SMA) showed changes in protein production at each stage of their development, from stem cells to fully mature nerve cells, a study discovered. Findings in this reported first-such study can be used to identify protein alterations that occur before the…

The muscle atrophy and weakness characteristic of spinal muscular atrophy (SMA) is aggravated by the loss of fast-contracting white muscle fibers in patients with later-onset disease, an MRI study showed, reportedly for the first time. Production of the energy molecule ATP was also found to be impaired in white…

Before the emergence of Spinraza (nusinersen) — the first disease-modifying therapy (DMT) approved for spinal muscular atrophy (SMA) — patients of all ages and types of the disease showed greater all-cause mortality than their peers who did not have SMA and the general population, according to a large study…

A family and medical history examination was crucial in the genetic counseling given a 28-year-old pregnant woman with two previous children with spinal muscular atrophy (SMA), whose standard genetic testing classified her as a non-carrier of the disease, a case study shows. This case highlights the limitations of standard carrier…

Biogen has exercised an option to acquire BIIB115, an investigational treatment for spinal muscular atrophy (SMA), from Ionis Pharmaceuticals. SMA is a rare genetic condition caused by mutations that lead to abnormally low levels of the survival motor neuron protein, known as SMN. BIIB115, previously called ION306,…

SMA News Today brought you daily coverage of the latest scientific findings, treatment developments, and clinical trials related to spinal muscular atrophy (SMA) throughout 2021. As a reminder of what mattered most to you during this year, here are the top 10 most-read articles of 2021 with a brief description of…