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


Excerpted from the GeneReview: Charcot-Marie-Tooth Hereditary Neuropathy Overview
Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet.

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CMT2T, DSMA5, HSJ-1, HSJ1, HSPF3, DNAJB2
    Summary: DnaJ heat shock protein family (Hsp40) member B2

  • Also known as: CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, IGHMBP2
    Summary: immunoglobulin mu binding protein 2

  • Also known as: CMT2U, ILFS2, ILLD, METRS, MRS, MTRNS, SPG70, MARS
    Summary: methionyl-tRNA synthetase

  • Also known as: CALLA, CD10, CMT2T, NEP, SCA43, SFE, MME
    Summary: membrane metalloendopeptidase

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center