Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant

Autor:	Julie, Baughn, William, Gershan, Aparna, Rao
Rok vydání:	2010
Předmět:	Male Muscular Atrophy Spinal Respiratory Distress Syndrome Newborn Respiration Diaphragm Mutation Humans Infant Respiratory Insufficiency Respiratory Paralysis
Zdroj:	Pediatric pulmonology. 46(8)
ISSN:	1099-0496
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::92ada9b52b54530cf08b8d140162b7dc https://pubmed.ncbi.nlm.nih.gov/21360834 Zobrazit plný text záznamu Plný text