Which clinical history findings are characteristic 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

Despite wide genetic heterogeneity, the phenotypes of the different CMT subtypes are relatively similar. [67] Dysfunction of all mutated proteins, even those involved in myelin formation, leads to the common end point of length-dependent axonal degeneration. Most patients present in the first 2 decades of life with some combination of distal muscle wasting and weakness (especially in the peroneal-innervated muscles) and distal sensory loss in the legs. History and examination alone are not sufficient to distinguish between predominantly demyelinating and predominantly axonal forms. [68, 66] Inheritance is usually dominant, but may also be X-linked or sporadic.


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