Diseases

Congenital Myasthenic Syndromes

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

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Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

28 entry terms
  • Congenital Myasthenia
  • Congenital Myasthenia Gravis
  • Congenital Myasthenic Syndrome
  • Myasthenia Gravis, Congenital
  • Myasthenic Syndromes, Congenital
  • Congenital Myasthenias
  • Gravi, Congenital Myasthenia
  • Myasthenia, Congenital
  • Myasthenias, Congenital
  • Myasthenic Syndrome, Congenital
  • Syndrome, Congenital Myasthenic
  • Syndromes, Congenital Myasthenic
  • Congenital Myasthenic Syndromes, Postsynaptic
  • Congenital Myasthenic Syndromes, Presynaptic
  • Congenital Slow-Channel Myasthenic Syndrome
  • Congenital Slow-Channel Myasthenic Syndromes
  • Myasthenic Syndrome, Congenital, Slow-Channel
  • Myasthenic Syndromes, Congenital, Slow Channel
  • Postsynaptic Congenital Myasthenic Syndrome
  • Postsynaptic Congenital Myasthenic Syndromes
  • Presynaptic Congenital Myasthenic Syndrome
  • Presynaptic Congenital Myasthenic Syndromes
  • Slow-Channel Congenital Myasthenic Syndrome
  • Slow-Channel Congenital Myasthenic Syndromes
  • Congenital Slow Channel Myasthenic Syndrome
  • Congenital Slow Channel Myasthenic Syndromes
  • Slow Channel Congenital Myasthenic Syndrome
  • Slow Channel Congenital Myasthenic Syndromes

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers

MeSH Record

History Note

2000

MeSH Record

Previous Indexing

  • Myasthenia Gravis/congenital (1970-1999)

MeSH Hierarchy

Tree Numbers

  1. C10w.668w.758w.800w
  2. C16w.320w.590w

AMA Style

References

  1. National Library of Medicine. Congenital Myasthenic Syndromes. Medical Subject Headings (MeSH). 2026. Unique ID D020294. http://id.nlm.nih.gov/mesh/2026/D020294
  2. Congenital Myasthenic Syndromes. In: Wikipedia. https://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome
  3. Congenital Myasthenic Syndromes. In: Wikidata. https://www.wikidata.org/wiki/Q3508800