Moxifloxacin, an antibiotic with a well-established safety profile, boosted production of the SMN protein in cellular models of spinal muscular atrophy (SMA) and it extended the lifespan and improved motor function in mice with the disease, a new study reports. “Preclinical data from patient-derived MNs [motor neurons] and a…
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Rehabilitation sessions using a robotic suit called ATLAS 2030 improved joint strength and mobility in three boys with spinal muscular atrophy (SMA) type 2, according to data from a clinical trial. While wearing the device, the boys, who could not walk independently, were able to complete tasks involving standing,…
Initiating a disease-modifying therapy (DMT) before the onset of symptoms and at the earliest time possible results in the best outcomes in infants with spinal muscular atrophy (SMA), with most achieving otherwise unachievable motor milestones and within the normal age range. This is particularly crucial for infants likely…
For most of his life, Jose Flores avoided interacting with the spinal muscular atrophy (SMA) community because he felt out of touch with it. An SMA type 4 patient, Flores didn’t need a wheelchair until he was 22, and found it difficult emotionally to see children who weren’t…
Muscle fasciculations, or twitches, in adolescents and adults with later onset forms of spinal muscle atrophy (SMA) were detected best with a muscle ultrasound, a study concluded. Muscle ultrasound combined with a physical examination is useful for screening adolescents and adults with weakness in muscles closest to the center…
Among adults with spinal muscular atrophy (SMA) being treated with Spinraza (nusinersen), a decrease in levels of the inflammatory protein YKL-40 in the fluid around the brain is associated with improvements in arm and hand function, according to a new study. “We conclude that YKL-40 in CSF [cerebrospinal…
The RNA-binding protein Mid1 increases levels of the mutated androgen receptor (AR) that drives nerve cell degeneration in spinal and bulbar muscular atrophy (SBMA), a new study shows. Since Mid1 is expressed mainly in lower motor neurons, the nerve cells mainly affected in SBMA, the study’s researchers proposed that…
No new safety signals related to Evrysdi (risdiplam) were documented in a compassionate use program in Germany where more than 100 people with spinal muscular atrophy (SMA) were treated with the oral therapy prior to its approval last year, a new study reports. “We present the first real-world…
Two years of training with a wearable cyborg hybrid assistive limb (HAL), combined with leuprorelin therapy, markedly improved the walking abilities of a man with spinal and bulbar muscular atrophy (SBMA), a case study reports. “This report describes the first successful case in the history of SBMA treatment in…
Scientists have revealed specific alterations to the neuromuscular junction (NMJ) — the place where nerves connect to the muscle they control — in fast-twitch muscle fibers in two mouse models of spinal and bulbar muscular atrophy (SBMA). The team also provided evidence for metabolic impairment and muscle fiber atrophy…
