Orphanet: Congenital myasthenic syndrome

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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

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

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Congenital myasthenic syndrome

ORPHA:590

A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2007)

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Guidelines

Disease review articles

Further information on this disease

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