title: Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
abstract: Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2) on chromosome 11q13. Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations. Intrauterine growth retardation, weak cry, and foot deformities were the earliest symptoms of SMARD1. Most patients presented at the age of 1 to 6 months with respiratory distress due to diaphragmatic paralysis and progressive muscle weakness with predominantly distal lower limb muscle involvement. Sensory and autonomic nerves are also affected. Because of the poor prognosis, there is a demand for prenatal diagnosis, and clear diagnostic criteria for infantile SMARD1 are needed. The diagnosis of SMARD1 should be considered in infants with non-5q spinal muscular atrophy, neuropathy, and muscle weakness and/or respiratory distress of unclear cause. Furthermore, consanguineous parents of a child with sudden infant death syndrome should be examined for IGHMBP2 mutations.
authors.affiliation: Department of Neuropediatrics, Charité, Campus Virchow-Klinikum, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: Grohmann
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Piroschka
authors.initials: P
authors.lastname: Stolz
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Catrin
authors.initials: C
authors.lastname: Janetzki
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Robert
authors.initials: R
authors.lastname: Ouvrier
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Nathalie M L A
authors.initials: NM
authors.lastname: Goemans
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Stephan
authors.initials: S
authors.lastname: Eichholz
authors.forename: Coleen
authors.initials: C
authors.lastname: Adams
authors.forename: Friedrich
authors.initials: F
authors.lastname: Bosch
authors.forename: Padraic
authors.initials: P
authors.lastname: Grattan-Smith
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Tilman
authors.initials: T
authors.lastname: Polster
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: Christina
authors.initials: C
authors.lastname: Steglich
authors.forename: Ulf P
authors.initials: UP
authors.lastname: Guenther
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors