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Laryngospasm, severe neonatal episodic(SNEL)

MedGen UID:
460867
•Concept ID:
C3149517
•
Disease or Syndrome
Synonym: SNEL
 
Monarch Initiative: MONDO:0800339
OMIM®: 608390

Definition

Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in the neonatal period, which can be alleviated by channel blockers. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLaryngospasm, severe neonatal episodic

Recent clinical studies

Etiology

The safety of general anaesthesia in paediatric patients undergoing the application of Biobrane® for small scalds.
Warwicker SJ, Lobo CA, Dailami N, Young AE
Burns 2015 Sep;41(6):1221-6. Epub 2015 Feb 25 doi: 10.1016/j.burns.2015.02.007. PMID: 25724104
Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773
Perioperative respiratory complications in patients with asthma.
Warner DO, Warner MA, Barnes RD, Offord KP, Schroeder DR, Gray DT, Yunginger JW
Anesthesiology 1996 Sep;85(3):460-7. doi: 10.1097/00000542-199609000-00003. PMID: 8853074
Gastroesophageal reflux in childhood.
Fonkalsrud EW, Ament ME
Curr Probl Surg 1996 Jan;33(1):1-70. PMID: 8536488

Diagnosis

New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.
Xi Q, Yi L, Zhou W, Chen J, Yang Z
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Dec 28;46(12):1430-1436. doi: 10.11817/j.issn.1672-7347.2021.200598. PMID: 35232915Free PMC Article
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.
Lion-Francois L, Mignot C, Vicart S, Manel V, Sternberg D, Landrieu P, Lesca G, Broussolle E, Billette de Villemeur T, Napuri S, des Portes V, Fontaine B
Neurology 2010 Aug 17;75(7):641-5. doi: 10.1212/WNL.0b013e3181ed9e96. PMID: 20713951
Gastroesophageal reflux in childhood.
Fonkalsrud EW, Ament ME
Curr Probl Surg 1996 Jan;33(1):1-70. PMID: 8536488

Therapy

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A
Pediatrics 2016 Apr;137(4) Epub 2016 Mar 4 doi: 10.1542/peds.2015-3289. PMID: 26944947
Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773
Perioperative respiratory complications in patients with asthma.
Warner DO, Warner MA, Barnes RD, Offord KP, Schroeder DR, Gray DT, Yunginger JW
Anesthesiology 1996 Sep;85(3):460-7. doi: 10.1097/00000542-199609000-00003. PMID: 8853074
Gastroesophageal reflux in childhood.
Fonkalsrud EW, Ament ME
Curr Probl Surg 1996 Jan;33(1):1-70. PMID: 8536488

Prognosis

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773
Gastroesophageal reflux in childhood.
Fonkalsrud EW, Ament ME
Curr Probl Surg 1996 Jan;33(1):1-70. PMID: 8536488

Clinical prediction guides

Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773

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