GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, X-linked recessive, type 2

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.

Associated genes

  • Location: Xp22.2

Clinical features

  • Muscle weakness
  • Areflexia
  • Distal muscle weakness
  • Distal sensory impairment
  • Impaired pain sensation
  • Gait disturbance
  • Intellectual disability
  • Kyphosis
  • Cognitive impairment
  • Amyotrophy
  • Incoordination
  • Tremor
  • Decreased nerve conduction velocity
  • Reduced tendon reflexes
  • Pes cavus
  • Neurological speech impairment
  • Scoliosis
  • Steppage gait
  • Decreased motor nerve conduction velocity
  • EMG: axonal abnormality
  • Upper limb muscle weakness
  • Distal amyotrophy
  • Reduced consciousness/confusion
  • Hemiplegia/hemiparesis
  • Foot dorsiflexor weakness
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