Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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.
Grohmann
Katja
K
Department of Neuropediatrics, Charité, Campus Virchow-Klinikum, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.
Varon
Raymonda
R
Stolz
Piroschka
P
Schuelke
Markus
M
Janetzki
Catrin
C
Bertini
Enrico
E
Bushby
Kate
K
Muntoni
Francesco
F
Ouvrier
Robert
R
Van Maldergem
Lionel
L
Goemans
Nathalie M L A
NM
Lochmüller
Hanns
H
Eichholz
Stephan
S
Adams
Coleen
C
Bosch
Friedrich
F
Grattan-Smith
Padraic
P
Navarro
Carmen
C
Neitzel
Heidemarie
H
Polster
Tilman
T
Topaloğlu
Haluk
H
Steglich
Christina
C
Guenther
Ulf P
UP
Zerres
Klaus
K
Rudnik-Schöneborn
Sabine
S
Hübner
Christoph
C
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
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors