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congenital myasthenic syndrome

MONDO:0018940

Also known as: CMS, Congenital Myasthenic Syndromes, myasthenic syndrome, congenital, congenital MG, congenital myasthenia

MONDO:
MONDO:0018940
Orphanet:
590
Rare disease33 associated genes

Description

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.

Associated genes

+23 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.