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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2E

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E; CMT 2E; Charcot-Marie-Tooth Neuropathy Type 2E/1F; Charcot-Marie-Tooth disease, axonal, Type 2E
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor. [from SNOMEDCT_US]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110, NEFL
    Summary: neurofilament light chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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