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Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 2F

Other Names for this Disease
  • Charcot Marie Tooth disease type 2F
  • Charcot-Marie-Tooth disease, axonal, Type 2F
  • Charcot-Marie-Tooth disease, neuronal, Type 2F
  • Charcot-Marie-Tooth neuropathy, type 2F
  • CMT 2F
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What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F?

The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed by slowly progressive weakness and atrophy of distal muscles in the feet and/or hands. Individuals often have decreased tendon reflexes and mild or no sensory loss.

Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea.

CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span.[1]
Last updated: 8/1/2012

  1. Thomas D. Bird. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. July 5, 2012; Accessed 7/31/2012.