People with spinal muscular atrophy (SMA) may experience bouts of breathlessness during sleep that can look at first glance like obstructive sleep apnea (OSA), but is not associated with a blockage of the airways that defines the sleep disorder, a case study highlights. Distinguishing between true sleep apnea and…
Measuring the electrical activity of a pair of nerves that control arm movement, called the median nerves, could help assess how people with spinal muscular atrophy (SMA) respond to Evrysdi (risdiplam). That’s according to “Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic…
A never-before-documented mutation in the SMN1 gene was identified as the cause of spinal muscular atrophy (SMA) type 1 for a baby in Cyprus. The case was reported in a study, “Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression…
A targeted test looking for mutations in known disease-associated genes in spinal muscular atrophy (SMA) was found to be a useful first step in identifying the cause of rare types of SMA, a new study reports. In fact, according to the researchers, “a total of ten patients with causative…
Levels of neurofilament light chain (NfL) in bodily fluids may be a marker of response to treatment with Spinraza (nusinersen) in children with spinal muscular atrophy (SMA) in the early stages of disease, a new study reports. “NfL can be a valuable biomarker for reflecting disease activities, particularly…
An intervention based on giving human milk instead of formula helped to improve the nutritional status of a baby with spinal muscular atrophy (SMA) type 1, a new study reports. “Within days of introducing the [human milk] derived diet as a supplement to his formula diet, [the patient] improved…
Long-term treatment with Spinraza (nusinersen) led to clinically relevant improvements in motor function for most adults and older children with spinal muscular atrophy (SMA) in a study. “Our data provide real-world evidence for continuous effectiveness and safety of long-term [Spinraza] treatment in adults and older children regardless 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…
The European Commission has granted orphan drug status to taldefgrobep alfa as a potential treatment for spinal muscular atrophy (SMA). The designation is given to therapies that may improve care for rare diseases. It confers certain incentives, including a reduction in some regulatory fees and a guarantee of 10…
Treatment with Spinraza (nusinersen) can improve the movement ability of the diaphragm — the large muscle in the chest that helps pull air in and out of the lungs during breathing — in previously untreated adults with spinal muscular atrophy (SMA), a study showed. The study, which was…
