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Congenital myasthenic syndrome
Disease definition
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
ORPHA:590
Classification level: Disorder- Synonym(s):
- CMS
- Prevalence: 1-9 / 1 000 000
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: G70.2
- ICD-11: 8C61
- OMIM: 254190 254210 254300 601462 603034 605809 608930 608931 610542 614198 614750 615120 616040 616224 616227 616228 616304 616313 616314 616321 616322 616323 616324 616325 616326 616330 616720 617143 617239 619461
- UMLS: C0751882
- MeSH: D020294
- GARD: 11902
- MedDRA: 10083942
A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2007)
Detailed information
General public
- Article for general public
- English (2010) - Socialstyrelsen
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
- Français (2022) - PNDS
- Deutsch (2022) - AWMF
- Anesthesia guidelines
- Czech (2014) - Orphananesthesia
- Deutsch (2014) - Orphananesthesia
- English (2014) - Orphananesthesia
- Español (2014) - Orphananesthesia
Disease review articles
- Review article
- English (2019) - Orphanet J Rare Dis
- Clinical genetics review
- English (2021) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.