Andrea Lobo,  —

Young children with severe spinal muscular atrophy (SMA) have substantial loss of motor neurons in the thoracic region of the spinal cord, the area between the neck and the bottom of the ribs, a study found. The study provides a detailed look at SMA pathology in the spinal cord,…

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…

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,…

The Ministry of Health, Labour, and Welfare (MHLW) in Japan has extended the approval of Evrysdi (risdiplam) for infants genetically diagnosed with spinal muscular atrophy (SMA) who are younger than 2 months and haven’t yet had symptoms. With this extension, the treatment is now available for patients of…

Substantial differences in newborn screening (NBS) practices for spinal muscular atrophy (SMA) across the U.S. could impact referral patterns or the timing of therapeutic interventions, a study shows. While healthcare providers evaluated newborns with positive results within the first week of life, many didn’t initiate therapy until after they…

Patients with spinal muscular atrophy (SMA) in China and their caregivers have low levels of health information literacy, or the ability to access, understand, evaluate, and use information to make health decisions, according to a study. In interviews, patients and caregivers indicated they had difficulties in assessing and evaluating…

An early spinal muscular atrophy (SMA) diagnosis with the help of a newborn screening program, and treatment with disease-modifying therapies before symptom onset, may prevent the development of SMA symptoms, according to a new study in Italy. The study found that children born without symptoms who started treatment shortly…

An 8-month-old girl with a clinical and genetic diagnosis of spinal muscular atrophy (SMA) type 1 saw her condition improve after starting treatment with Evrysdi (risdiplam), according to a recent case reported in China. Specifically, the treatment improved the girl’s muscle tone and head control as well…

A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…

Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with standard…