Long-term follow-up of a 6-year-old girl with spinal muscular atrophy type 1. A case report

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to progressive paralysis and weakness of the proximal muscles. The disease affects between 1 in 6,000 and about 1 in 10,000 patients, and it is the most common hereditary cause of death in children. It is a severe, incurable, and progressive disease that leads to respiratory failure and immobilization for many patients. The authors present a long-term course of multi-specialist care in a girl with SMA) type 1. Keywords: Spinal muscular atrophy, SMA, type 1, neuromuscular disease ________________________________________________________________________________________