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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth disease X-linked dominant 1

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth Neuropathy X Type 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; X-linked Charcot-Marie-Tooth disease type 1
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limited episodes of transient neurologic dysfunction (especially weakness and dysarthria). Peripheral neuropathy typically manifests in affected males between ages five and 25 years. Although both men and women are affected, manifestations tend to be less severe in women, some of whom may remain asymptomatic. Less commonly, initial manifestations in some affected individuals are stroke-like episodes (acute fulminant episodes of reversible CNS dysfunction). [from GeneReviews]

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTX, CMTX1, CX32, GJB1
    Summary: gap junction protein beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Molecular resources

Consumer resources

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