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Descriptor English: Myasthenic Syndromes, Congenital
Descriptor Spanish: Síndromes Miasténicos Congénitos
Descriptor síndromes miasténicos congénitos
Entry term(s) miastenia congénita
miastenia gravis congénita
síndrome miasténico congénito
síndrome miasténico congénito de canal lento
síndrome miasténico congénito del canal lento
síndrome miasténico congénito postsináptico
síndrome miasténico congénito presináptico
síndromes miasténicos congénitos de canales lentos
síndromes miasténicos congénitos postsinápticos
síndromes miasténicos congénitos presinápticos
Scope note: Grupo heterogéneo de trastornos que se caracterizan por un defecto congénito de la transmisión neuromuscular en la UNIÓN NEUROMUSCULAR. Incluye trastornos presinápticos, sinápticos, y postsinápticos (que no son de origen autoimmune). La mayoría de estas enfermedades son producidos por mutaciones de varias subunidades del receptor nicotínico de la acetilcolina (RECEPTORES NICOTÍNICOS) en la superficie postsinaptica de la unión. (Arch Neurol 1999 Feb;56(2):163-7)
Descriptor Portuguese: Síndromes Miastênicas Congênitas
Descriptor French: Syndromes myasthéniques congénitaux
Entry term(s): Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenias
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Presynaptic
Congenital Slow Channel Myasthenic Syndrome
Congenital Slow Channel Myasthenic Syndromes
Congenital Slow-Channel Myasthenic Syndrome
Congenital Slow-Channel Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Myasthenia, Congenital
Myasthenias, Congenital
Myasthenic Syndrome, 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
Slow-Channel Congenital Myasthenic Syndrome
Slow-Channel Congenital Myasthenic Syndromes
Syndrome, Congenital Myasthenic
Syndromes, Congenital Myasthenic
Tree number(s): C10.668.758.800
C16.320.590
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D020294
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)
Annotation: do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Myasthenia Gravis/congenital (1970-1999)
Public MeSH Note: 2000
History Note: 2000
Entry Version: MYASTHENIC SYNDROMES CONGEN
Related: Myasthenia Gravis MeSH
DeCS ID: 34336
Unique ID: D020294
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2000/01/01
Date of Entry: 1999/11/08
Revision Date: 2020/05/27
Myasthenic Syndromes, Congenital - Preferred
Concept UI M0328231
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)
Preferred term Myasthenic Syndromes, Congenital
Entry term(s) Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenias
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Myasthenia, Congenital
Myasthenias, Congenital
Myasthenic Syndrome, Congenital
Syndrome, Congenital Myasthenic
Syndromes, Congenital Myasthenic
Myasthenic Syndromes, Congenital, Slow Channel - Narrower
Concept UI M0337366
Preferred term Myasthenic Syndromes, Congenital, Slow Channel
Entry term(s) Congenital Slow Channel Myasthenic Syndrome
Congenital Slow Channel Myasthenic Syndromes
Congenital Slow-Channel Myasthenic Syndrome
Congenital Slow-Channel Myasthenic Syndromes
Myasthenic Syndrome, Congenital, Slow-Channel
Slow Channel Congenital Myasthenic Syndrome
Slow Channel Congenital Myasthenic Syndromes
Slow-Channel Congenital Myasthenic Syndrome
Slow-Channel Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Presynaptic - Narrower
Concept UI M0337368
Preferred term Congenital Myasthenic Syndromes, Presynaptic
Entry term(s) Presynaptic Congenital Myasthenic Syndrome
Presynaptic Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic - Narrower
Concept UI M0337367
Preferred term Congenital Myasthenic Syndromes, Postsynaptic
Entry term(s) Postsynaptic Congenital Myasthenic Syndrome
Postsynaptic Congenital Myasthenic Syndromes



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