Which clinical history findings are characteristic 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

Because of the insidious onset, some patients are unaware of their disease and seek medical attention only late in life. Parents, caregivers, or teachers may notice clumsiness, frequent sprains, poor athletic performance, or toe walking in a child. For example, one of the authors' patients noticed that her father's feet slapped the ground when he walked around the house. Later, having observed her personal series of 20 relatives, she was able to accurately diagnose CMT in her grandchildren and in her siblings' grandchildren by watching their feet point down when sitting on the ground. Not infrequently, asymptomatic individuals are detected during screening of families after one relative has been diagnosed. Depending on the age of onset, children may have normal examination findings. Occasionally, the only finding is impaired heel gait.


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