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| Descriptor English: | Myasthenic Syndromes, Congenital | ||||||
| Descriptor Spanish: |
Síndromes Miasténicos Congénitos
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| Descriptor Portuguese: | Síndromes Miastênicas Congênitas | ||||||
| Descriptor French: | Syndromes myasthéniques congénitaux | ||||||
| Entry term(s): |
SMC (Syndromes Myasthéniques Congénitaux) SMC post-synaptiques SMC pré-synaptiques SMC à canaux lents Syndrome du canal lent Syndrome myasthénique congénital Syndromes myasthéniques congénitaux post-synaptiques Syndromes myasthéniques congénitaux postsynaptiques Syndromes myasthéniques congénitaux pré-synaptiques Syndromes myasthéniques congénitaux présynaptiques Syndromes myasthéniques congénitaux à canaux lents |
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| Tree number(s): |
C10.668.758.800 C16.320.590 |
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| 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) |
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| Annotation: | do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers |
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| Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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| Related: |
Myasthénie
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 |
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Syndromes myasthéniques congénitaux
- Preferred
Syndrome du canal lent
- Narrower
Syndromes myasthéniques congénitaux pré-synaptiques
- Narrower
Syndromes myasthéniques congénitaux post-synaptiques
- Narrower
| Concept UI |
M0328231 |
| Preferred term | Syndromes myasthéniques congénitaux |
| Entry term(s) |
SMC (Syndromes Myasthéniques Congénitaux) Syndrome myasthénique congénital |
| Concept UI |
M0337366 |
| Preferred term | Syndrome du canal lent |
| Entry term(s) |
SMC à canaux lents Syndromes myasthéniques congénitaux à canaux lents |
| Concept UI |
M0337368 |
| Preferred term | Syndromes myasthéniques congénitaux pré-synaptiques |
| Entry term(s) |
SMC pré-synaptiques Syndromes myasthéniques congénitaux présynaptiques |
| Concept UI |
M0337367 |
| Preferred term | Syndromes myasthéniques congénitaux post-synaptiques |
| Entry term(s) |
SMC post-synaptiques Syndromes myasthéniques congénitaux postsynaptiques |
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