Congenital myasthenic syndrome with episodic apnoea (CMS-EA)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Congenital myasthenic syndrome with episodic apnoea (CMS-EA). CHAT: this accounts for most cases, SLC5A7, RAPSN. Fully referenced neurology checklist.

Genetic mutations

  • CHAT: this accounts for most cases
  • SLC5A7 
  • RAPSN

Myasthenic features

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Episodic apnoea

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Obstetric features

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Other features

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Triggers for crisis

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Brain pathology

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Treatment

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References

  1. McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol 2018; 265:194-203.
  2. Barisic N, Müller JS, Paucic-Kirincic E, et al. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Eur J Paediatr Neurol 2005; 9:7-12. 
  3. Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK. Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Arch Neurol 2003; 60:761-763.
  4. Ohno K, Tsujino A, Brengman JM, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2001; 98:2017-2022.
  5. Liu ZM, Fang F, Ding CH, et al. Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases. Zhonghua Er Ke Za Zhi 2018; 56:216-220.

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