Abstract |
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.
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Authors | Astrid Pechmann, Matthias Eckenweiler, David Schorling, Dimitra Stavropoulou, Hanns Lochmüller, Janbernd Kirschner |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 29
Issue 11
Pg. 907-909
(11 2019)
ISSN: 1873-2364 [Electronic] England |
PMID | 31732390
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2019 Elsevier B.V. All rights reserved. |
Chemical References |
- NAV1.4 Voltage-Gated Sodium Channel
- SCN4A protein, human
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Topics |
- Elasticity
- Genetic Variation
- Humans
- Infant
- Infant, Newborn
- Male
- Muscular Diseases
(genetics, physiopathology, therapy)
- Myotonia Congenita
(genetics, physiopathology, therapy)
- NAV1.4 Voltage-Gated Sodium Channel
(genetics)
- Phenotype
- Respiratory Insufficiency
(genetics, physiopathology, therapy)
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