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

Disease characteristics

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 2
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.

Associated genes

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

Clinical features

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  • Hyporeflexia
  • Areflexia
  • Distal muscle weakness
  • Upper limb muscle weakness
  • Distal sensory impairment
  • Axonal degeneration/regeneration
  • Pes cavus
  • Steppage gait
  • Decreased number of peripheral myelinated nerve fibers
  • Distal amyotrophy
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