Survival without Permanent Respiratory Support in a Patient with SMA Type 1 Treated with Nusinersen

Spinal muscular atrophy (SMA) is a rare, but severe disease, which characterized by progressive weakness resulting in permanent assisted ventilation before the age of 2. Supportive care used to be only available treatment. However, relevant progress has been achieved with approval nusinersen (an antisense oligonucleotide modulating SMN2 splicing), changed disease outcome for many patients. Thus, management SMA patients requires multidisciplinary approach pharmacological and non-pharmacological treatments provide necessary supportive symptom management, nutritional support active rehabilitation optimize muscle function. In this paper we aimed report first patient type 1 Latin America region that was able get off ventilator without tracheostomy after an early treatment nusinersen, continuing date stable no need ventilatory support.