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

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

Clinical features

  • Hyporeflexia
  • Areflexia
  • Distal muscle weakness
  • Distal sensory impairment
  • Hypotrophy of the small hand muscles
  • Ulnar claw
  • Pes cavus
  • Hammertoe
  • Steppage gait
  • Decreased motor nerve conduction velocity
  • Distal amyotrophy
  • Foot dorsiflexor weakness
Show all (12)

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.

Write to the Help Desk