Clinical-epidemiological profile and motor function data of patients with spinal muscular atrophy and four or more copies of SMN2
Background: The clinical phenotype of individuals with Spinal Muscular Atrophy linked to chromosome 5q (SMA-5q) with four or more copies of the SMN2 gene are still poorly described, and the initiation of treatment in the pre-symptomatic phase remains controversial. Characterizing this group is essential to guide therap...