Which clinical history findings are characteristic in 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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Patients usually have a significant family history of Charcot-Marie-Tooth disease (CMT). [33] This history varies, depending on the inheritance and penetrance pattern of the particular disorder. Spontaneous mutations also have been reported.

Slow-progressing weakness beginning in the distal limb muscles, typically in the lower extremities before the upper extremities, generally is noted. [3] The most common clinical phenotype is the CMT syndrome with distal muscle wasting and weakness, tendon areflexia, usually mild sensory loss, and foot deformity. [4] A subgroup of patients with CMT-1A can present with proximal muscle wasting and weakness. [34] Cranial nerve deficits in a member of a CMT-1 family carrying an EGR2 mutation have been reported. [35]

  • Onset usually is in the first 2 decades of life.

  • Patients' initial complaints may be difficulty walking and frequent tripping because of foot and distal leg weakness. Frequent ankle sprains and falls are characteristic. [3]

  • Parents may report that a child is clumsy or simply not very athletic.

  • As weakness becomes more severe, foot drop commonly occurs. Steppage (ie, gait in which patient must lift the leg in an exaggerated fashion to clear the foot off the ground) also is common. [3]

  • Intrinsic foot muscle weakness commonly results in the foot deformity known as pes cavus. [13, 3] Symptoms related to structural foot abnormalities include calluses, ulcers, cellulitis, or lymphangitis.

  • Hand weakness results in complaints of poor finger control, poor handwriting, difficulty using zippers and buttons, and clumsiness in manipulating small objects. [36, 37, 38]

  • Patients usually do not complain of numbness. This phenomenon may be due to the fact that CMT patients will have never had normal sensation and therefore, simply do not perceive their lack of sensation.

  • Musculoskeletal pain may be present due to significant deformities. Neuropathic pain is also quite common and can cause significant disability. [32, 39, 40] Muscle cramping is a common complaint.

  • Autonomic symptoms usually are absent, but a few men with CMT have reported impotence.

A study by Tozza et al indicated that in patients with CMT-1A, the greatest disturbance in daily life results from weakness in the lower limbs, while the lowest impact is produced by upper limb weakness. However, in older patients and those with greater disability, balance problems were the most disruptive deficits. [41]

A prospective cohort study by Kennedy et al conservatively estimated that the incidence of falls in children and adolescents with CMT is 33 times greater than that of peers undergoing typical development. Moreover, falls in the study’s patients with CMT more commonly resulted in injury than did those in the control group (34.2% of falls vs 11.5%, respectively). [42]

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