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GTR Home > Conditions/Phenotypes > Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita of Von Eulenburg

Synonyms
Eulenburg disease; Myotonia congenita intermittens; Paralysis periodica paramyotonica; Paramyotonia congenita; Von Eulenburg paramyotonia congenita
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992). [from OMIM]

Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, SCN4A
    Summary: sodium voltage-gated channel alpha subunit 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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