Early Diaphragmatic Paralysis: In Infants with Genetic Disorders

Three infants with recently diagnosed genetic diseases presented with respiratory failure and required assisted ventilation. One infant had spinal muscular atrophy (Werdnig-Hoffmann disease), and two had acid maltase deficiency. The cause of the respiratory failure in all was diaphragmatic paralysis, and they became ventilator dependent. Early diaphragmatic paralysis must be considered as a manifestation of genetic neuromuscular disorders.