De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Elasticity Genetic Variation Humans Infant Infant, Newborn Male Muscular Diseases / genetics Myotonia Congenita / genetics NAV1.4 Voltage-Gated Sodium Channel / genetics Phenotype Respiratory Insufficiency / genetics
Muscle stiffness Myotonia Respiratory failure SCN4A

Journal

Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470

Informations de publication

Date de publication:
11 2019
Historique:
received: 20 03 2019
revised: 16 06 2019
accepted: 02 09 2019
pubmed: 17 11 2019
medline: 1 9 2020
entrez: 17 11 2019
Statut: ppublish

Résumé

Variants of the skeletal muscle sodium channel gene SCN4A are associated with different neuromuscular disorders including sodium channel myotonia. Here, we report an infant with a de novo variant in SCN4A presenting with neonatal onset of severe muscle stiffness with involvement of facial and eyelid muscles, and life-threatening events with respiratory failure due to severe apnoea and thorax rigidity. The boy dramatically improved in both respiratory and motor function under carbamazepine therapy.

Identifiants

DOI: 10.1016/j.nmd.2019.09.001 PMID: 31732390
pubmed: 31732390
pii: S0960-8966(19)31108-3
doi: 10.1016/j.nmd.2019.09.001
pii:
doi:

Substances chimiques

NAV1.4 Voltage-Gated Sodium Channel 0
SCN4A protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

907-909

Informations de copyright

Copyright © 2019 Elsevier B.V. All rights reserved.

Auteurs

Astrid Pechmann (A)

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Matthias Eckenweiler (M)

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

David Schorling (D)

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Dimitra Stavropoulou (D)

Department of General Pediatrics, Divisions of Neonatology/Intensive Care Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Hanns Lochmüller (H)

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.

Janbernd Kirschner (J)

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Neuropediatrics, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address: janbernd.kirschner@uniklinik-freiburg.de.

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiques › Phénomènes mécaniques › Élasticité › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Myotonie congénitale › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux sodiques › Canal sodique voltage-dépendant NAV1.4 › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › De novo variant in SCN4A causes neonatal...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Troubles respiratoires › Insuffisance respiratoire › De novo variant in SCN4A causes neonatal...