Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Background: Spinal muscular atrophy (SMA) is a disorder caused by homozygous loss of function the SMN1 gene. This gene produces survival motor neuron (SMN) protein, which important in homeostasis. The SMN2 has homology with SMN1, but only expresses 10% functional full-length SMN protein. treatment available Brazilian public health system Nusinersen, an antisense oligonucleotide that increases proportion