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Disease Myasthenic Syndromes, Congenital

Name Myasthenic Syndromes, Congenital
Synonyms Congenital Myasthenia | 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 | Gravi, Congenital Myasthenia | Myasthenia Gravis, Congenital | Myasthenic Syndrome, Congenital | Myasthenic Syndrome, Congenital, Slow-Channel | 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
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)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D020294
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Junction Diseases Has associated chemicals Has associated genes Myasthenic Syndromes, Congenital Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Myasthenic Syndromes, Congenital Has associated chemicals Has associated genes

Top ↑ Descendants

Myasthenic Syndromes, Congenital Has associated chemicals Has associated genes
  Congenital myasthenic syndrome ib Has associated chemicals Has associated genes
  Endplate Acetylcholinesterase Deficiency Has associated chemicals Has associated genes
  Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors
  Myasthenia, Familial Infantile, 1 Has associated genes
  Myasthenia, Limb-Girdle, Autoimmune
  Myasthenia, Limb-Girdle, with Tubular Aggregates
  Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism
  Myasthenic Syndrome, Congenital, Fast-Channel Has associated chemicals Has associated genes
  Myasthenic Syndrome, Congenital, Ie
  Myasthenic syndrome, congenital, postsynaptic slow-channel Has associated chemicals Has associated genes
  Myasthenic syndrome, congenital, type Id Has associated chemicals Has associated genes
  Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
  Myasthenic Syndrome due to Mutation in SCN4A
  Myopathy, Congenital, Compton-North Has associated chemicals Has associated genes