Adults with spinal muscular atrophy (SMA) recommend individually tailored patient-reported outcome measures, or PROMs, to accurately gauge their lived experience, with a focus that goes beyond assessments of physical function to incorporate mental health, sexual function, sleep, and fatigue. “New or modified patient-reported outcome measures should be developed collaboratively…
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…
A 33-year-old woman with spinal muscular atrophy (SMA) type 3 became pregnant while on Spinraza (nusinersen) treatment, and subsequently gave birth to a healthy child, according to a case report. The case “helps to elucidate new approaches for future guidelines in the management of pregnancy and SMA,” the…
Throughout 2024, SMA News Today brought our readers daily coverage of the latest clinical research and scientific breakthroughs related to spinal muscular atrophy (SMA). Here are the top 10 most-read stories we published last year, each with a brief description. We’re excited to continue serving the SMA community in…
Nearly 4 of every 5 infants with spinal muscular atrophy (SMA) type 1 born in Italy during the era of disease-modifying therapies (DMTs) are still alive, illustrating that such treatment has “radically changed the course of … type I SMA,” with “much higher survival,” according to a nationwide…
Researchers reported a unique mutation that supported an 8-year-old girl’s diagnosis of spinal muscle atrophy with lower extremity predominance (SMA-LED). The mutation, mapped to the BICD2 gene, resulted in a severe form of SMA-LED, type 2B, that emerged before birth and was primarily marked by joint contractures in infancy.
Variations in more than a dozen genes related to inflammation, neurodevelopment, and oxidative stress associate with the severity of spinal muscular atrophy (SMA) and disease type, as well as person’s age at onset and their motor and lung function, researchers report. “Further exploration of these pathways offers a…
Children with spinal muscular atrophy (SMA) are at a higher risk of hospitalization due to respiratory tract infections, including those caused by the respiratory syncytial virus (RSV), a small, single-center study in Switzerland suggests. Although 1 in 4 hospitalizations was due to an RSV infection, all the children with…
Oral strength and endurance — important for functions like swallowing, speaking, and chewing — were found diminished in adults with spinal muscular atrophy (SMA) in three out of five assessments, according to a new study. In particular, untreated SMA type 2 patients who couldn’t walk had the most…
A new large-scale genetic screening technique for spinal muscular atrophy (SMA) called comprehensive SMA analysis, or CASMA, was more effective at detecting disease-related mutations in carriers than standard approaches, a study reports. CASMA “is a simple and accurate screening method for SMA, which shows greater clinical efficacy in the…
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