RESPIRATORY AND NUTRITIONAL OUTCOMES DURING SMN-DIRECTED THERAPY IN PATIENTS WITH 5Q-SPINAL MUSCULAR ATROPHY

Spinal muscular atrophy (SMA) is a progressive hereditary neuromuscular disorder caused predominantly by biallelic pathogenic variants of the SMN1 gene. Deficiency of functional survival motor neuron protein results in progressive degeneration of α-motor neurons, producing symmetrical muscle weakness, muscular atrophy and progressive loss of motor abilities. Although impairment of motor function represents the most evident clinical manifestation of SMA, respiratory, bulbar and nutritional complications are also major determinants of disease burden and long-term prognosis.