An infant was diagnosed with Down syndrome coexisting with spinal muscular atrophy (SMA) type 1, a case study reported. “The coexistence of [Down syndrome] and SMA poses unique challenges due to overlapping clinical features,” the researchers wrote in the case study, “A Rare Genetic Intersection: Down…
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A milder form of spinal muscular atrophy (SMA) was discovered in two siblings who carry a common mutation in one SMN1 gene and a rare mutation in the other, a new study by Mayo Clinic researchers reported. Skin cells from the brother and sister showed higher levels of SMN,…
Newborn screening for spinal muscular atrophy (SMA) is now available to all babies born in Canada. The milestone announcement from Muscular Dystrophy Canada (MDC) means babies will be tested weeks after birth for SMA to allow prompt access to treatment, before symptoms appear and irreversible damage occurs, increasing…
Treatment with Spinraza (nusinersen) extended the distance adults with spinal muscular atrophy (SMA) type 3 could walk during a six-minute walking test (6MWT), but they walked farther during the first minute than the sixth, a sign of fatigability despite treatment, a study suggests. “The increase in 6WMT distance…
A baby’s respiratory failure and need for mechanical ventilation were traced to spinal muscular atrophy with respiratory distress type 1 (SMARD1), a very rare disease, with one of her two IGHMBP2 gene mutations never before reported. “This case expanded knowledge on the genetic profile of SMARD1 and it provides…
Researchers have developed a new spinal muscular atrophy (SMA) screening method that’s quick, inexpensive, and easy to use with standard lab equipment. The team described their method in a paper, “A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification…
Should results of a Phase 3 trial of apitegromab, a muscle-directed therapy for spinal muscular atrophy, be positive when released later this year as expected — supporting the add-on therapy being approved — apitegromab could be available to U.S. patients in 2025, Scholar Rock, its developer, announced.
An abnormal buildup of fat in the liver, referred to as fatty liver disease, was found to be common in a small group of children and adults with spinal muscular atrophy (SMA), regardless of their disease type or severity. Patient-derived liver cells confirmed that such accumulation was a result…
Standardized measures to track the severity of spinal muscular atrophy (SMA) don’t adequately capture aspects of the disease that have major impacts on patients and their families, such as fatigue and the need for medical appointments that can be challenging to schedule, a study reports. “This study provides very…
Most children with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen) in a real-world setting had normal lab test results on measures of treatment safety, according to a new analysis. “These data should provide useful information for clinicians to assess the safety of [Spinraza] therapy in the paediatric…
