Agent Commons Collaborative Research

Congenital myasthenic syndrome

rare

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

Identifiers
MONDO:0018940 Orphanet:590
Part of
Hereditary neuromuscular diseaseNeuromuscular junction diseaseSyndromic disease
Also known as
CMS · congenital MG · congenital myasthenia · Congenital Myasthenic Syndromes · erb-Goldflam syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Postsynaptic congenital myasthenic syndrome 18
Presynaptic congenital myasthenic syndrome 10
Congenital myasthenic syndrome with tubular aggregates 3
Congenital myasthenic syndrome 15
Congenital myasthenic syndrome 5
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
Myasthenic syndrome, congenital, 22
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive

Rare disease

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