News

Doctors expected Stephen Mikita to live for six months after his diagnosis, in the late 1950s, with spinal muscular atrophy (SMA) type 2. Now 66, Mikita can look back on a successful career in law, first as a law clerk to the late U.S. Sen. Orrin Hatch, a Republican…

Newborn screening for spinal muscular atrophy (SMA) leads to better outcomes, with babies being diagnosed earlier and with prompt access to life-saving treatments, according to three-year data from the SMA screening program in the state of New York. Gene therapy was the main treatment strategy, and delays in getting…

Children diagnosed with spinal muscular atrophy (SMA) are usually informed about the diagnosis by their parents, who frequently lack support and information about the disease, ultimately leading to poor communication that can be emotionally painful for everyone involved, according to a new study. “Poor communication has a double negative…

Higher levels of the glial fibrillary acidic protein (GFAP) in the fluid around the brain and spinal cord are associated with poorer motor function among people with spinal muscular atrophy (SMA), a new study reports. These results indicate that cells called astrocytes are more active in advanced SMA, according…

In the first year of a newborn screening program for spinal muscular atrophy (SMA) in Japan, more than 10,000 babies were screened and one tested positive for the disease, according to a new study. The baby with SMA was able to receive the gene therapy Zolgensma (onasemnogene abeparvovec-xioi)…

Compared to what would be expected without treatment, the approved oral therapy Evrysdi (risdiplam) led to marked benefits in survival and motor outcomes for babies with spinal muscular atrophy (SMA) type 1, according to a comparison of clinical trial data. “Untreated infants with Type 1 SMA … reached…

Moxifloxacin, an antibiotic with a well-established safety profile, boosted production of the SMN protein in cellular models of spinal muscular atrophy (SMA) and it extended the lifespan and improved motor function in mice with the disease, a new study reports. “Preclinical data from patient-derived MNs [motor neurons] and a…

Rehabilitation sessions using a robotic suit called ATLAS 2030 improved joint strength and mobility in three boys with spinal muscular atrophy (SMA) type 2, according to data from a clinical trial. While wearing the device, the boys, who could not walk independently, were able to complete tasks involving standing,…

Initiating a disease-modifying therapy (DMT) before the onset of symptoms and at the earliest time possible results in the best outcomes in infants with spinal muscular atrophy (SMA), with most achieving otherwise unachievable motor milestones and within the normal age range. This is particularly crucial for infants likely…

For most of his life, Jose Flores avoided interacting with the spinal muscular atrophy (SMA) community because he felt out of touch with it. An SMA type 4 patient, Flores didn’t need a wheelchair until he was 22, and found it difficult emotionally to see children who weren’t…