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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 5

Congenital myasthenic syndrome 5

Synonyms
COLQ-Related Congenital Myasthenic Syndrome; Endplate acetylcholinesterase deficiency

Summary

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. 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. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS5, EAD, COLQ
    Summary: collagen like tail subunit of asymmetric acetylcholinesterase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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