Atrofia muscular espinhal: uma revisão sistemática sobre a evolução do seu tratamento

Abstract

Objective: To describe Spinal Muscular Atrophy pathophysiology, diagnostic methods and it´s existent and incoming treatments in Brasil and in the world, comparing the prognoses according to the chosen therapy and the type fo patient´s SMA diease classification. Methods: It´s a systematic literature review that analyzed articles published in full text in scientific journals available on the internet, found in the database PUBMED, Scielo and Lilacs with de following descriptors: spinal muscular atrophy AND diagnosis AND treatment AND prognosis. It was found 56 articles, of which 20 were excluded in first analysis because they did´t fit to our purpose. After a second strict reading, 10 others were excluded. Results: Nusinersen presents therapeutic strategies to increase the level of SMN protein in motor neurons with focus on increasing the effectiveness of SMN2. Zolgensma (AVXS-101) is characterized as a gene therapy, with a single intravenous dose that delivers a copy of the SMN in an adeno-associated viral serotype. The side effects found were headache, post-lumbar puncture syndrome, pain at the puncture site, nasopharyngitis, back pain and vomiting. Several articles discussed the importance of early treatment initiation. Conclusion: Zolgensma was shown to have better efficacy than Nusinersen, especially when assessing the survival rate without the use of permanent mechanical ventilation, a better motor function response and a higher rate of motor milestones reached after therapy. Nevertheless, new methodologies that facilitate the early diagnosis of SMA are still needed, since the effectiveness of the treatment is directly correlated with this fact.