Neonatal spinal muscular atrophy presenting as respiratory distress: a clinical variant.
Respiratory distress from diaphragmatic and intercostal muscular weakness was the presenting feature of two neonates with progressive spinal muscular atrophy, leading to death in the first 2 months of life. This atypical feature provides evidence of heterogeneity within the commonly used clarification of type 1 spinal muscular atrophy.
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis*; D013131:Spine / Q000473:pathology