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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease dominant intermediate C

Summary

A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. [from SNOMEDCT_US]

Available tests

35 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: CMTDIC, IMNEPD2, TYRRS, YARS, YRS, YTS, YARS1
    Summary: tyrosyl-tRNA synthetase 1

Clinical features

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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

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