Details

Autor(en) / Beteiligte

• Pechmann, Astrid
• Eckenweiler, Matthias
• Schorling, David
• Stavropoulou, Dimitra
• Lochmüller, Hanns
• Kirschner, Janbernd

Titel

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

Ist Teil von

• Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.907-909

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2019

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• •Phenotype with neonatal onset of symptoms in sodium channel myotonia.•Identification of a new de novo variant in SCN4A.•Carbamazepine as effective treatment for neonatal onset sodium channel myotonia. 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.