Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies

Abstract

Background Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have been approved, with better outcomes with earlier treatment.

Keywords

• Survival of Motor Neuron 1 Protein
• Muscular Atrophy, Spinal
• Genetic Therapy
• Proteína 1 de Sobrevivência do Neurônio Motor
• Atrofia Muscular Espinhal
• Terapia Genética