GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, type ID

Disease characteristics

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.

Associated genes

Clinical features

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  • Distal muscle weakness
  • Upper limb muscle weakness
  • Steppage gait
  • Decreased motor nerve conduction velocity
  • Distal amyotrophy
  • Foot dorsiflexor weakness
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