AI Article Synopsis
- Before pathogenetic therapy, a diagnosis of spinal muscular atrophy (SMA) meant a grim outlook with inevitable decline and early death for patients.
- New therapies like nusinersen and risdiplam, along with onasemnogene abeparvovec, are now available in Russia, offering hope for SMA patients.
- Nusinersen works by modifying the splicing of genes to boost the production of a crucial protein for motor neuron survival, and the article highlights a successful case of long-term treatment in a patient with SMA type 3.
Article Abstract
Before the advent of pathogenetic therapy, the diagnosis of spinal muscular atrophy (SMA) meant the loss of all hopes for recovery and the patient's setting on the path of a steady decline in motor functions, a deterioration in the quality of life and, ultimately, inevitable early death. Currently, new methods of pathogenetic therapy with nusinersen and risdiplam, as well as etiological therapy with onasemnogene abeparvovec, are available in the Russia. Nusinersen is an antisense oligonucleotide that modifies splicing of the gene to increase production of normal full-length motor neuron survival protein, which is deficient in SMA. The mechanism of action of Nusinersen is based on the activation of the disabled exon 7 of the gene. The article describes an example of long-term effective treatment using pathogenetic therapy of a patient diagnosed with SMA type 3.
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| http://dx.doi.org/10.17116/jnevro2024124041153 | DOI Listing |
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