Avances terapéuticos en atrofia muscular espinal

Abstract

Background. Spinal muscular atrophy is a hereditary degenerative neurological pathology. It causes a gradual degeneration of motor neurons in the spinal cord anterior horn, also known as first motor neuron disease. As a result, weakness and progressive muscle atrophy are generated. It affects 1 infant for every 10,000 live births, which is why it is classified as a relevant cause of infant morbidity and mortality. Despite there currently being no cure, the best-known drugs are nusinersen and onasemnogene abaparvovec, acting at the genetic level in the treatment of the disease. Methodology. This study is a Scoping Review with PICO and PRISMA methodology using the PUBMED database through bibliographic descriptors with the use of keywords applying inclusion and exclusion eligibility criteria. Objetive. Detail the new therapeutic advances for the management of spinal muscular atrophy. Discussion and Results. With a total of 17 selected articles, it was shown that the new therapeutic options enrich the medical options to treat this disease, with lower costs and successful long-term results. Conclusion. It is one of the genetic diseases with the highest mortality rate around the world. An early diagnosis significantly improves the patient's prognosis and allows the appropriate decision to be made regarding treatment, ensuring its effectiveness