Premium
Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant
Author(s) -
Baughn Julie,
Gershan William,
Rao Aparna
Publication year - 2011
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.21419
Subject(s) - medicine , respiratory distress , spinal muscular atrophy , pulmonologists , atrophy , respiratory failure , neuromuscular disease , respiratory system , paralysis , pediatrics , pathology , disease , intensive care medicine , surgery
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. Pediatr. Pulmonol. 2011; 46:817–819. © 2011 Wiley‐Liss, Inc.