Atrofia muscular espinal: nuevos paradigmas terapéuticos

Zusammenfassung

Spinal muscular atrophy (SMA) is a neurodegenerative disease of autosomal recessive inheritance, that causes degeneration of the motor neurons of the medullary anterior horn, with consequent muscle weakness. Patients with type 1 SMA or Werdnig Hoffmann disease account for 50% of all types of SMA. It is the leading genetic cause of infant mortality, mainly due to respiratory complications. Treatment includes a multidisciplinary approach. Following approval of the Nusinersen antisense oligonucleotide, based on the results of two pivotal studies: ENDEAR (early-onset SMA) and CHERISH (late-onset SMA), which have shown significant improvements in both survival and motor function of patients withSMA, there has been a paradigm shift in the treatment of the disease. In addition, there are new lines of gene therapy research, recently approved by the United States Food and Drug Administration (FDA), AVXS-101 (Zolgensma®), a new gene replacement therapy. We present a clinical case of a 7-month-old infant with hypotonia, with clinical and neurophysiological tests compatible with spinal muscular atrophy, confirmed by a genetic study, in which treatment with Nusinersen was started at diagnosis, showing a slight improvement in motor function and stability from the respiratory point of view. Early diagnosis and treatment have never been so important, as the results of new therapies are directly related to early treatment.