Oct 2026
Clinical profile of patients with spinal muscular atrophy at a neuromuscular disease reference center
Background: Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord, leading to progressive proximal muscle weakness and atrophy. The disease presents a wide clinical spectrum with five phenotypes, with type 1 being the most severe and...
Camilla Rocha Medeiros Pinho, Gabriel Negreiros de Camargo Martins Moreira, Cléo Alcântara Fernandes Silva et al.
· ANPAbstract_CBN26 · 0 citations