A combination of genetic testing approaches enabled researchers in Spain to more accurately characterize complex genetic changes that may help explain differences in disease severity in spinal muscular atrophy (SMA), according to a new study. The findings suggest…
Two previously unknown large deletions involving the SMN1 gene, whose loss is the primary cause of spinal muscular atrophy (SMA), were identified in two women with a mild form of the disease using long-read whole-genome…
Targeting a stress-activated signaling pathway may offer a new way to treat spinal muscular atrophy (SMA), either on its own or in combination with existing therapies. Researchers found that blocking the c-Jun N-terminal kinase (JNK) pathway…
Sleep issues, common in people with spinal muscular atrophy (SMA), may be driven not only by nighttime breathing problems linked to weak respiratory muscles but also by changes in how the brain regulates sleep, a review of…
Women with spinal muscular atrophy (SMA) can experience successful pregnancies and give birth to healthy babies when supported by specialist, team-based care, according to a U.K. case series. The report followed eight pregnancies in six women…
Changes in the motor unit, which is made up of a nerve cell and the muscle fibers it controls, may help doctors better understand how severe spinal muscular atrophy (SMA) is in each person, according to…
A one-time treatment designed to correct a single letter, or base, in the SMN2 gene increased levels of the survival motor neuron (SMN) protein — which is lacking in spinal muscular atrophy (SMA) — and prolonged survival in…
A New York-based scientist has been awarded for his pioneering work that led to the development of Spinraza (nusinersen), the first RNA-based therapy to target the underlying cause of spinal muscular atrophy (SMA). Adrian R. Krainer,…
Blood creatinine-to-cystatin-c ratio, an emerging indicator of muscle mass and strength, may be a promising biomarker of therapeutic response in adults with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly associated…
Richard Finkel, MD, a pediatric neurologist at St. Jude Children’s Research Hospital, was included on a list of 100 individuals having a positive influence on global health in 2025, in recognition of his work treating childhood neuromuscular disorders…
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