Congenital Myasthenic Syndromes

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Is a:
  • Disease or Syndrome
Definition:
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)
Synonyms:
  • Congenital Myasthenia Gravis
  • Congenital Myasthenic Syndrome
  • Congenital Myasthenic Syndromes
  • Congenital Myasthenic Syndromes, Postsynaptic
  • Congenital Myasthenic Syndromes, Presynaptic
  • Congenital Slow Channel Myasthenic Syndromes
  • Congenital Slow-Channel Myasthenic Syndromes
  • Myasthenia Gravis, Congenital
  • Myasthenic Syndrome, Congenital
  • Myasthenic Syndromes, Congenital, Slow Channel
  • Postsynaptic Congenital Myasthenic Syndromes
  • Presynaptic Congenital Myasthenic Syndromes
  • Slow Channel Congenital Myasthenic Syndromes
  • Slow-Channel Congenital Myasthenic Syndromes
  • Syndrome, Congenital Myasthenic
  • Syndromes, Congenital Myasthenic
Broader Topics:
Narrower Topics:
  • None
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