title: Early infantile sensory-motor neuropathy with late onset respiratory distress.
abstract: Children with spinal muscular atrophy with respiratory distress (SMARD1) usually present within their first year of life, with respiratory failure due to diaphragmatic paralysis and progressive distal limb weakness. We present a child with a confirmed compound heterozygous IGHMBP2 mutation c.[676G>T];[2083A>T] in whom severe sensory-motor neuropathy preceded diaphragmatic paralysis by almost 3years. Autonomic system involvement with neurogenic bladder and urine retention were found at 3years. In summary, our patient highlights the broad spectrum of phenotypes observed in SMARD1. Currently, no prediction of phenotype according to genotype is possible, suggesting that yet unknown factors cause the observed phenotypic variation. Even in the absence of obvious diaphragmatic weakness, SMARD1 should be considered in severe infantile onset neuropathies. High throughput techniques, such as next generation sequencing, will possibly offer a useful approach in the heterogeneous group of inherited neuropathies.
authors.affiliation: Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany. Electronic address: astrid.blaschek@med.uni-muenchen.de.
authors.forename: Astrid
authors.initials: A
authors.lastname: Blaschek
authors.affiliation: Genetikum, Neu-Ulm, Germany.
authors.forename: Dieter
authors.initials: D
authors.lastname: Gläser
authors.affiliation: Genetikum, Neu-Ulm, Germany.
authors.forename: Marius
authors.initials: M
authors.lastname: Kuhn
authors.affiliation: Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany; German Center for Vertigo and Balance Disorders, Munich University Hospital, Germany.
authors.forename: Andreas Sebastian
authors.initials: AS
authors.lastname: Schroeder
authors.affiliation: Schön Klinik Vogtareuth, Spinal Surgery with Scoliosis Centre, Vogtareuth, Germany.
authors.forename: Cornelius
authors.initials: C
authors.lastname: Wimmer
authors.affiliation: Department of Orthopedic Surgery, Pediatric Orthopedic Unit, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians-University Munich, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Heimkes
authors.affiliation: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany.
authors.forename: Carola
authors.initials: C
authors.lastname: Schön
authors.affiliation: Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Müller-Felber
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D011859:Radiography; D012120:Respiration Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis*
keywords: Autonomic neuropathy; Distal neuropathy; IGHMBP2; Respiratory distress; SMARD 1