Weakness in the hip abductor muscles and a lack of functional weight-bearing may contribute to hip displacement seen in patients with spinal muscular atrophy (SMA) and cerebral palsy (CP), according to a new study published in the Journal of Children’s Orthopaedics. Persistent proximal femoral lateral physeal tilt by head shaft angle was observed in both…
Recent research shows the long-term benefits and safety of risdiplam (Evrysdi®) use in both infants and adults with spinal muscular atrophy (SMA) type 1. A recent press release by Genentech shared new results from the FIREFISH study, which included 48 patients aged 1 to 7 months who were previously diagnosed with type 1 SMA. The…
Researchers discovered that cells that are deficient in the survival motor neuron (SMN) protein exhibit increased ribosomal DNA damage and published their results in Life Science Alliance. Spinal muscular atrophy (SMA) is a disease characterized by abnormally low levels of the SMN protein. The phenotype of this disease is progressive muscular atrophy and weakness which…
Combining treatment modalities increases the levels of SMN protein and improves the pathophysiology of spinal muscular atrophy (SMA), according to a study conducted on a mouse model of the disease. This approach can “broaden the therapeutic range of current treatments,” said the authors of the study published in Human Molecular Genetics. Current disease-modifying treatments for…
Researchers discovered that a real-time polymerase chain reaction (PCR) test based on high-resolution melting offered a high-throughput and advantageous approach to large-scale screening for spinal muscular atrophy (SMA) and published their findings in Brain & Development. Alterations in the SMN1 gene are the main drivers of SMA pathology. Research indicates that the overwhelming majority of…
Using antisense oligonucleotides in combination or in higher concentration to treat spinal muscular atrophy (SMA) may actually be detrimental, according to a new study published in Genes. The results show that antisense oligonucleotides used in combination or at high concentration seem to reduce the rate of splicing and lead to the formation of cryptic exons…
Positive efficacy and safety results with nursinersen treatment at 6 and 14 months of follow-up in adult patients with spinal muscular atrophy (SMA) were recently reported in a study published in Neuromuscular Disorders. The researchers found increases in the baseline Medical Research Council (MRC) strength scale and the median revised Hammersmith scale (RHS) scores. “We…
SMN-deficient microglia may play a complex role in the pathology of spinal muscular atrophy (SMA), according to a new study published in Glia. Human-induced pluripotent stem cell (iPSC)-derived microglia obtained from a patient with SMA exhibited a reactive morphology with an increased soma size and reduced number of processes and an altered transcriptome profile compared…
Researchers found that type 1 spinal muscular atrophy (SMA) is associated with lower weight, while types 2 and 3 with shorter height, as published in Muscle & Nerve. The observational retrospective study led by Darras included 91 patients with SMA who had previously undergone genetic testing to confirm the diagnosis and were currently complying with…
The deficiency of survival motor neuron (SMN) protein leads to the dysregulation of several microtubule-associated proteins simultaneously, according to a new study published in Molecular and Cellular Neuroscience. This contributes to the disruption of microtubule dynamics in spinal muscular atrophy (SMA), the authors said. It was already known that the loss of SMN protein impairs…
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