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Myasthenic syndrome, congenital, 25, presynaptic

Synonyms
Myasthenic syndrome, congenital, 25

Summary

Congenital myasthenic syndrome-25 (CMS25) is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by Shen et al., 2017). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS25, SAX1, SPAX1, SYB1, VAMP-1, VAMP1
    Summary: vesicle associated membrane protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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