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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 10

Congenital myasthenic syndrome 10

Synonyms
AGRN-Related Congenital Myasthenic Syndrome; DOK7-Related Congenital Myasthenic Syndrome; Myasthenia, limb-girdle, familial

Summary

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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C4orf25, CMS10, CMS1B, FADS3, DOK7
    Summary: docking protein 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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