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Abstract
Background: Myotonia is unusual in infants, and not well-known.
Methods: We describe neonatal life-threatening features of myotonia caused by de novo mutations in the muscle sodium channel gene SCN4A.
Results: Three male neonates initially displayed episodic laryngospasms, with face and limb myotonia appearing later. We found SCN4A de novo mutations in these neonates: p.Gly1306Glu in 2 unrelated cases and a novel mutation p.Ala799Ser in the third. Two patients survived their respiratory attacks and were efficiently treated by sodium channel blockers (mexiletine, carbamazepine) following diagnosis of myotonia.
Conclusion: Severe neonatal episodic laryngospasm is a new phenotype caused by a sodium channelopathy, which can be alleviated by channel blockers.
Footnotes
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Supplemental data at www.neurology.org
Study funding: Résocanaux is supported by a grant from ANR–maladies rares.
Disclosure: Author disclosures are provided at the end of the article.
Received February 2, 2010. Accepted in final form May 7, 2010.
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