GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, demyelinating, type 1b

Summary

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.

Available tests

87 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

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