Currently used clinical scales for men with spinal and bulbar muscular atrophy (SBMA) can be easily and reliably used remotely to monitor disease progression when patients are unable to visit a doctor’s office, according to a study in Italy. The study, “Reliable virtual clinical assessment in spino-bulbar muscular…
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High-resolution magnetic resonance imaging (MRI) scans of the facial nerve could provide a non-invasive and accurate way of detecting motor neuron impairments and aid doctors in making a diagnosis of spinal and bulbar muscular atrophy (SBMA), a small study suggests. The study, “The facial nerve atrophy with…
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Researchers Find New Gene That May be Involved in Spinal and Bulbar Muscular Atrophy Development
A new gene of unknown function, called FAM135B, is expressed at lower levels in a cellular model of spinal and bulbar muscular atrophy (SBMA) and is thought to play a role in supporting spinal motor neurons’ growth and survival, a study found. The study, “Phenotypic and molecular features underlying neurodegeneration of…
A $123,933 grant will boost the efforts of University of Oxford scientist Carlo Rinaldi, MD, PhD, to advance understanding of spinal and bulbar muscular dystrophy (SBMA) in the hopes that it will eventually lead to a treatment. The three-year grant is being co-funded by the…
Evrysdi (risdiplam) effectively improved motor function in adults with spinal muscular atrophy (SMA) type 2 or type 3, particularly skills like hand strength and function, a small study in France shows. Most patients also reported gains in bulbar functions, that is, speaking, chewing, and swallowing, and eased breath…
NIDO-361, Nido Biosciences’ experimental oral treatment for spinal and bulbar muscular atrophy (SBMA), was seen to be generally safe and well tolerated in healthy adults who participated in an initial clinical trial. Results of the Phase 1 study (ACTRN12622000964718) were presented during the 2023 International Kennedy’s…
Treatment with bicalutamide and trehalose extended survival and improved motor function in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. Both compounds had beneficial effects on some aspects of muscle fiber structure and reduced cell death. While bicalutamide also lowered levels of toxic…
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…
Most of the children with spinal muscular atrophy (SMA) who received the gene therapy Zolgensma (onasemnogene abeparvovec) in their first weeks of life are able to walk independently within developmentally normal age ranges, according to new research from the SPR1NT clinical trial. The findings were presented at this year’s…
A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its size — may be useful for treating spinal and bulbar muscular atrophy (SBMA), a rare form of adult-onset spinal muscular atrophy, a new study suggests.