R. E. Escobar-Cedillo

Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America

Background: 5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (SMN2) copy number. The advent of disease-modi...