A group of healthcare professionals involved in the diagnosis and care of people with spinal muscular atrophy (SMA) in Scotland, and in research into the rare genetic condition, is calling for the addition of SMA to the list of diseases included in the country’s free newborn screening (NBS) program.
A research team in the U.S. has developed a new DNA reference, or benchmark, map with detailed sequence information on a number of genes, including SMN1 — the disease-causing gene in spinal muscular atrophy (SMA). Such information was missing from previous benchmark maps due to the genes’ intrinsic features.
The Scottish Medicines Consortium (SMC) has added oral Evrysdi (risdiplam) to the list of medications available through the country’s National Health Service (NHS) at low or no cost to eligible spinal muscular atrophy (SMA) patients, SMA UK announced. These include those 2 months and older diagnosed with SMA type…
Note: This story was updated Feb. 14, 2022, to clarify that this was a case of two successful pregnancies in the same woman, not that it was only the second-known such case in this population. A 28-year-old Indonesian woman with spinal muscular atrophy (SMA) type 3 who…
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…
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…
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…
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…
Surgery to correct kyphoscoliosis — a combination of two types of abnormal curvature of the spine — allows the successful delivery of Spinraza (nusinersen) into the spinal canal of children with spinal muscular atrophy (SMA) type 1, a case series study shows. However, post-surgery complications occurred in all four described…
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