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

摘要

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.