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Postsynaptic congenital myasthenic syndrome

MedGen UID:
199758
•Concept ID:
C0751883
•
Disease or Syndrome
Synonyms: Congenital Myasthenic Syndromes, Postsynaptic; Postsynaptic Congenital Myasthenic Syndrome; Postsynaptic Congenital Myasthenic Syndromes
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020344
Orphanet: ORPHA98913

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPostsynaptic congenital myasthenic syndrome

Professional guidelines

PubMed

Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.
Dejthevaporn C, Wetchaphanphesat S, Pulkes T, Rattanasiri S, Engel AG, Witoonpanich R
J Clin Neurosci 2022 Feb;96:85-89. Epub 2022 Jan 6 doi: 10.1016/j.jocn.2021.12.016. PMID: 34999496
Guidelines for genetic testing of muscle and neuromuscular junction disorders.
Nicolau S, Milone M, Liewluck T
Muscle Nerve 2021 Sep;64(3):255-269. Epub 2021 Jun 16 doi: 10.1002/mus.27337. PMID: 34133031
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Therapy

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B
Neuropediatrics 2004 Aug;35(4):246-9. doi: 10.1055/s-2004-820993. PMID: 15328566

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