Newborn screening (NBS) programs for spinal muscular atrophy (SMA) were available in 33 countries as of the beginning of 2024, including the U.S. and most countries in the European Union. That’s according to a survey that gathered responses from experts in 80 countries. According to the researchers, “projections indicate…
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The mother of a baby with spinal muscular atrophy (SMA) was given Evrysdi (risdiplam) for the last few weeks of her pregnancy, and the baby was started on the SMA treatment shortly after birth. The child, now 2.5, has not shown signs of SMA. “During the course of…
Profound deficits in mechanisms essential for swallowing are common among untreated infants with spinal muscular atrophy (SMA) type 1, according to a natural history study. While nearly all the babies could initiate the swallowing process, problems in the transfer of food or liquids from the throat into the esophagus…
While effective treatment is lengthening life and improving its quality, children with spinal muscular atrophy (SMA) type 1 often have abnormal spinal curvatures like scoliosis that require long-term care, a study highlights. “Novel therapies have made this [SMA] a treatable condition, resulting in increased life expectancy,” the researchers, all…
The U.S. Food and Drug Administration (FDA) has approved a new tablet formulation of Evrysdi (risdiplam), an approved oral treatment for spinal muscular atrophy (SMA). “Evrysdi has robust potential to modify the SMA disease trajectory, and has already been used to treat thousands of patients to date,” Levi Garraway, MD,…
Treatment with Spinraza (nusinersen), which was the first disease-modifying therapy to be approved for spinal muscular atrophy (SMA) back in 2016, does not lead to significant kidney dysfunction in people with SMA types 1 and 2, according to a new study from Turkey. Further, the researchers did not…
Metabolic abnormalities, including the buildup of fat in the liver and other issues, occur before the loss of motor neurons, according to a study in a mouse model of spinal muscular atrophy (SMA). The mice, with reduced levels of the SMN protein, exhibited decreased levels of glucose (sugar) in…
Cure SMA is leading an advocacy campaign for new research funding from the U.S. Department of Defense (DOD) that would be dedicated to addressing unmet challenges for people with spinal muscular atrophy (SMA). The campaign is seeking $10 million in SMA-dedicated funding from the DOD’s medical research program,…
Bulbar muscles, those of the face and throat, are affected in spinal muscular atrophy (SMA), and researchers in Germany found that young children with SMA cannot open their mouths as well as age-matched infants and toddlers without this disease. “There is a growing interest in the swallowing and the…
Limited social interaction and difficulties in accessing needed medications and physical therapy were consequences of the COVID-19 pandemic, parents and grandparents of children with spinal muscular atrophy (SMA) in Sweden reported. In online surveys and chats, family members spoke of having to take charge of their child’s physiotherapy and…
