What are the signs and symptoms of Charcot-Marie-Tooth (CMT) disease?

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Patients with CMT can present with many symptoms and signs, although motor symptoms predominate over sensory symptoms in all age groups. Onset may occur in infancy, with a delay in motor milestones, a gait or running impairment with otherwise normal rate of development, or with toe walking. [69] Adolescents may present with steppage gait, ankle injuries, or deformities like pes cavus or thin lower legs. Family members familiar with other affected relatives may bring children to medical attention based on other nonspecific motor problems. [65] Some patients with lifelong mild symptoms may not seek medical care until they experience frequent tripping or imbalance in late life, and only close questioning will reveal any evidence of prior impairment. [66] Asymptomatic patients can be detected during screening after a relative has been diagnosed.

  • Sensation is often experienced as normal, and positive sensory symptoms such as dysesthetic pain are not as common as with acquired peripheral neuropathies. Pain of musculoskeletal origin or from entrapped nerves or compressed nerve roots is more common. [70, 65]

  • Gait is impaired by distal weakness but usually remains independent; proximal weakness only affects a minority of patients. [71, 66]

  • As mentioned earlier, clinical progression is slow and any acceleration should lead to a workup for superimposed conditions. [64]

  • Family history is usually suggestive of autosomal dominant inheritance, but the complete lack of a family history does not rule out any of the CMT subtypes. Recessively inherited mutations may have little to no family history, and sporadic patients due to de novo mutations are common. [72, 42]


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