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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

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D
Curr Opin Neurol 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. PMID: 31361628Free PMC Article
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
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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