GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease

Disease characteristics

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

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Clinical features

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  • Tonic pupil
  • Hyporeflexia
  • Areflexia
  • Distal muscle weakness
  • Hypertrophic nerve changes
  • Distal sensory impairment
  • Myelin outfoldings
  • Onion bulb formation
  • Cold-induced muscle cramps
  • Ulnar claw
  • Pes cavus
  • Hammertoe
  • Kyphoscoliosis
  • Steppage gait
  • Decreased number of peripheral myelinated nerve fibers
  • Decreased motor nerve conduction velocity
  • Limb muscle weakness
  • Distal amyotrophy
  • Foot dorsiflexor weakness
  • Peripheral demyelination
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