Which physical findings are characteristic of Charcot-Marie-Tooth disease (CMT)?

Updated: Jun 23, 2021
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Elizabeth A Moberg-Wolff, MD  more...
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Answer

In patients with Charcot-Marie-Tooth disease (CMT), distal muscle wasting may be noted in the legs, resulting in the characteristic stork leg or inverted champagne bottle appearance.

Bony abnormalities commonly seen in long-standing CMT include the following:

  • In 25% of cases, pes cavus (high-arch foot), which is probably analogous to the development of claw hand in ulnar nerve lesion, occurs in the first decade of life; in 67% of cases it arises in later decades. Other foot deformities also can occur (see following images). [13, 3]

    Foot deformities in a 16-year-old boy with Charcot Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
    Foot of 29-year-old with advanced Charcot-Marie-To Foot of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
  • Hand deformities can occur with wasting of intrinsic hand muscles and claw hand. See the following image.

    Hands of 29-year-old with advanced Charcot-Marie-T Hands of 29-year-old with advanced Charcot-Marie-Tooth disease type 1.
  • Spinal deformities (eg, thoracic scoliosis) occur in 37-50% of patients with CMT-1.

Other characteristics of CMT include the following:

  • Deep tendon reflexes (DTRs) are markedly diminished or absent
  • Vibration sensation and proprioception are decreased significantly, although patients usually have no sensory symptoms
  • Patients may have sensory gait ataxia, and Romberg test is usually positive
  • Sensation of pain and temperature usually is intact
  • Essential tremor is present in 30-50% of CMT patients
  • Sensory neuronal hearing loss is observed in 5% of patients [43, 44]
  • Enlarged and palpable peripheral nerves are common
  • Phrenic nerve involvement with diaphragmatic weakness is rare, but it has been described
  • Vocal cord involvement and hearing loss can occur in rare forms of CMT [43, 44]

A study by Reynaud et al indicated that in patients with CMT-1A, the isokinetic muscle strength (IMS) of the knee extensors correlates with walking speed, while for patients under age 50 years, IMS of the knee flexors also relates to speed. [45]

A study by Cardoso et al indicated that children with CMT exhibit higher peak pressure (medial midfoot, medial forefoot) and a greater pressure-time integral (rearfoot, lateral midfoot, medial forefoot) than do young people without CMT. In adolescents with CMT, according to the report, the contact area (whole foot) is smaller and the contact time (medial midfoot) is greater than in controls. [46]


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