title: Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
abstract: Spinal muscular atrophy with respiratory distress (SMARD1) is a rare autosomal recessive disease that is caused by mutations in the gene encoding for immunoglobulin µ-binding protein 2. Unlike the relatively more common spinal muscular atrophy, patients with SMARD1 have respiratory distress prior to manifestation of distal muscle weakness making the diagnosis a challenge. Because respiratory distress is a hallmark feature of this disease, pediatric pulmonologists should recognize its features, and consider it as a diagnostic entity.
authors.affiliation: Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53201, USA. jbaughn@mcw.edu
authors.forename: Julie
authors.initials: J
authors.lastname: Baughn
authors.forename: William
authors.initials: W
authors.lastname: Gershan
authors.forename: Aparna
authors.initials: A
authors.lastname: Rao
mesh_terms: D003964:Diaphragm / Q000294:innervation / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D012119:Respiration / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000235:genetics; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000235:genetics; D012133:Respiratory Paralysis / Q000235:genetics