Myasthenic Syndromes, Congenital [kongenitální myastenické syndromy]
- Terms
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kongenitální myastenické syndromy, postsynaptické
kongenitální myastenické syndromy, presynaptické
kongenitální myastenie
myastenické syndromy vrozené
vrozené myastenické syndromy
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Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Presynaptic
Congenital Slow-Channel Myasthenic Syndrome
Congenital Slow-Channel Myasthenic Syndromes
Myasthenia Gravis, Congenital
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
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)
- Annotation
- do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
- DUI
- D020294 MeSH Browser
- CUI
- M0328231
- Previous indexing
- Myasthenia Gravis/congenital (1970-1999)
- History note
- 2000
- Public note
- 2000
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 6
- CO
- complications
- DI
- diagnosis 16
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 4
- GE
- genetics 8
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 6
- UR
- urine
- VE
- veterinary
- VI
- virology
Congenital myasthenic syndrome ib Disease MeSH Browser
Endplate Acetylcholinesterase Deficiency Disease MeSH Browser
Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors Disease MeSH Browser
Myasthenia, Familial Infantile, 1 Disease MeSH Browser
Myasthenia, Limb-Girdle, Autoimmune Disease MeSH Browser
Myasthenia, Limb-Girdle, with Tubular Aggregates Disease MeSH Browser
Myasthenic Syndrome due to Mutation in SCN4A Disease MeSH Browser
Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism Disease MeSH Browser
Myasthenic Syndrome, Congenital, Fast-Channel Disease MeSH Browser
Myasthenic Syndrome, Congenital, Ie Disease MeSH Browser
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency Disease MeSH Browser
Myasthenic syndrome, congenital, postsynaptic slow-channel Disease MeSH Browser
Myasthenic syndrome, congenital, type Id Disease MeSH Browser
Myopathy, Congenital, Compton-North Disease MeSH Browser
Pierson syndrome Disease MeSH Browser