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Generalized hypotonia due to defect at the neuromuscular junction

MedGen UID:
343014
Concept ID:
C1853950
Finding
Synonym: Generalised hypotonia due to defect at the neuromuscular junction
 
HPO: HP:0003397

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized hypotonia due to defect at the neuromuscular junction

Conditions with this feature

Familial infantile myasthenia
MedGen UID:
140751
Concept ID:
C0393929
Disease or Syndrome
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Congenital myasthenic syndrome 4A
MedGen UID:
908188
Concept ID:
C4225413
Disease or Syndrome
Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).

Recent clinical studies

Diagnosis

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X
Cold Spring Harb Mol Case Stud 2019 Apr;5(2) Epub 2019 Apr 1 doi: 10.1101/mcs.a003756. PMID: 30755392Free PMC Article

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