SMN2 gene

A combination of a ready-to-use SMN protein and an experimental treatment targeting the SMN2 gene, which works in a similar way to Spinraza (nusinersen), eased abnormalities in motor neurons derived from a spinal muscle…

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…

Without treatment, most people with spinal muscular atrophy (SMA) who have four copies of the “backup” SMN2 gene will start developing symptoms in early childhood, a study indicates. “The early onset of symptoms in our cohort, coupled with the expected wide clinical variability, strongly supports the characterization of…

Genetic alterations related to two genes, SMN2 and NAIP, could help to predict the severity of spinal muscular atrophy (SMA), according to a recent analysis. Among patients with SMA type 1 and type 2 in Egypt, all of whom had standard disease-causing mutations in the SMN1 gene, fewer copies…

Researchers in the U.S. report using a gene-editing method to alter the SMN2 gene sequence, leading to normal levels of the survival motor neuron (SMN) — the protein that is lacking in spinal muscular atrophy — in early studies. These results were obtained in a cell line derived from…

  How spinal muscular atrophy (SMA) manifests among people who carry four copies of the SMN2 gene varies, ranging from type 2 to type 4, with functional abilities showing a tendency to decline with age, a study in Italy finds. Understanding how the disease progresses over time and what…