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

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Answer

Sensation may be normal until adulthood. Distal mild pansensory loss is common and, with semiquantitative methods, can often be documented in children. At times, sensation is severely impaired. Sensory changes dominate in HSN, which are not a subject of this article.

Paresthesias are typically less severe and rarely a presenting symptom, in marked contrast to acquired neuropathies. However, upon further questioning, paresthesias are mentioned. Patients may deny sensory symptoms despite marked loss of sensation on examination. Radicular pain resulting from CMT1 is rare but well described and is caused by nerve roots that are enlarged (and sometimes visible by MRI) because of ongoing demyelination/remyelination with connective tissue proliferation. Back and radicular pain unrelated to CMT1 is likely to be more common in patients with CMT.


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