A European survey of people living with spinal muscular atrophy (SMA) has found that while treatment options have expanded since the first medicine was approved in 2017, patient journeys remain far from straightforward. Data from the 2025 European Patient Experience Survey on SMA Medicines, Access, and Treatment Journeys…
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A new blood test may offer a faster and simpler way to reliably diagnose most cases of spinal muscular atrophy (SMA), with results available in about one hour, a study showed. The LNA-PCR assay looks for homozygous SMN1 deletions, the most common SMA-causing mutation, in which a key section of…
Proteins involved in producing histones, which help package DNA inside cells, may take on new roles in mature nerve and muscle cells, a U.S.-Polish study found. The findings could provide new clues about spinal muscular atrophy (SMA). Researchers found that as nerve and muscle cells…
Managing a career, dating, and air travel for individuals with spinal muscular atrophy (SMA) comes down to three key tools: open communication, smart energy management, and proactive planning. These strategies were discussed during a recent webinar hosted by SMA News Today, where advocates living with the…
The successful implementation of a spinal muscular atrophy (SMA) carrier screening program in southern China shows the “feasibility and clinical utility” of such a program in the country, researchers said. The program tested thousands of people, allowing couples at high risk of having a child with SMA to be…
In spinal muscular atrophy (SMA), the death of nerve cells — which results in the progressive muscle weakness and wasting that characterize the rare disease — begins in wire-like nerve fibers known as axons, a new study from researchers in Scotland shows. The findings suggest that current SMA…
Evrysdi (risdiplam) may improve nighttime breathing in adults with spinal muscular atrophy (SMA), a small, real-world study in Italy found. After 12 months on Evrysdi, study participants experienced fewer episodes of breathing that stopped or became too shallow during sleep, along with fewer associated drops in blood oxygen…
Scholar Rock has successfully removed a manufacturing facility from its application to the U.S. Food and Drug Administration (FDA) seeking approval of apitegromab, an experimental muscle-strengthening treatment for spinal muscular atrophy (SMA). The move follows an announcement earlier this month that the company planned to remove…
MRI measurements of the facial nerve, which controls the muscles used for facial expression, may offer a simple way to detect damage to motor neurons — nerve cells that control movement — in adults with spinal muscular atrophy (SMA), according to a study. They may also reflect physical weakness…
Infants diagnosed with spinal muscular atrophy (SMA) type 1 through newborn screening programs (NBS) and treated early with Spinraza (nusinersen) showed better survival, motor function, milestone achievement, and feeding and breathing independence than infants who began treatment after symptoms appeared, a real-world study in Turkey found. The nationwide…
