Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation

Nahin Hussaın

doi:10.17334/jps.94897

Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation

Year 2010, Volume: 2 Issue: 4, 0 - , 21.08.2010

Abstract

The Congenital Myasthenic Syndromes (CMS) are a group of rare genetic disorders affecting neuromuscular transmission and often presents within first year of life. A high index of suspicion is usually required as clinical manifestations can be variable and non specific. RAPSN mutations are likely to be one of the common causes for CMS in patients of Indo-European ethnic origin. Clinical phenotype includes arthrogryposis, respiratory crises, transient torticollis at birth, facial deformities and weakness. Chronic stridor as an early manifestation of CMS has not been described before.

Keywords

Congenital myasthenic syndromes, RAPSN mutation, chronic stridor

Year 2010, Volume: 2 Issue: 4, 0 - , 21.08.2010

Nahin Hussaın

Abstract

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Details

Primary Language	English
Journal Section	Case Reports
Authors	Nahin Hussaın
Publication Date	August 21, 2010
Published in Issue	Year 2010 Volume: 2 Issue: 4

Cite

APA	Hussaın, N. (2010). Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences, 2(4). https://doi.org/10.17334/jps.94897
AMA	Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. August 2010;2(4). doi:10.17334/jps.94897
Chicago	Hussaın, Nahin. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences 2, no. 4 (August 2010). https://doi.org/10.17334/jps.94897.
EndNote	Hussaın N (August 1, 2010) Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences 2 4
IEEE	N. Hussaın, “Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation”, Journal of Pediatric Sciences, vol. 2, no. 4, 2010, doi: 10.17334/jps.94897.
ISNAD	Hussaın, Nahin. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences 2/4 (August 2010). https://doi.org/10.17334/jps.94897.
JAMA	Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. 2010;2. doi:10.17334/jps.94897.
MLA	Hussaın, Nahin. “Chronic Stridor As an Early Presentation of Congenital Myasthenic Syndrome Due to RAPSN Mutation”. Journal of Pediatric Sciences, vol. 2, no. 4, 2010, doi:10.17334/jps.94897.
Vancouver	Hussaın N. Chronic stridor as an early presentation of congenital myasthenic syndrome due to RAPSN mutation. Journal of Pediatric Sciences. 2010;2(4).