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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Myasthenic Syndromes, Congenital
Nervous System Diseases > Neuromuscular Diseases > Neuromuscular Junction Diseases > Myasthenic Syndromes, Congenital

Preferred term

Myasthenic Syndromes, Congenital  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Congenital Myasthenia
  • Congenital Myasthenia Gravis
  • Congenital Myasthenias
  • Congenital Myasthenic Syndrome
  • Congenital Myasthenic Syndromes
  • Gravi, Congenital Myasthenia
  • Myasthenia, Congenital
  • Myasthenia Gravis, Congenital
  • Myasthenias, Congenital

Note

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

Scope note

  • 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)

History note

  • 2000

In other languages

  • synnynnäiset lihasheikkousoireyhtymät

    Finnish

  • kongenitaaliset lihasheikkousoireyhtymät
  • kongenitaaliset lihasheikkoussyndroomat
  • kongenitaaliset myasteeniset oireyhtymät
  • kongenitaaliset myasteeniset syndroomat
  • kongenitaaliset myasteniaoireyhtymät
  • kongenitaaliset myasteniasyndroomat
  • synnynnäiset lihasheikkoussyndroomat
  • synnynnäiset myasteeniset oireyhtymät
  • synnynnäiset myasteeniset syndroomat
  • synnynnäiset myasteniaoireyhtymät
  • synnynnäiset myasteniasyndroomat
  • Kongenital myasteni

    Swedish

  • Kongenitala myastena syndrom
  • Medfödd myasthenia gravis
  • Medfött myastensyndrom

URI

http://www.yso.fi/onto/mesh/D020294

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