Which physical findings are characteristic of specific Charcot-Marie-Tooth (CMT) disease subtypes?

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

Some of the CMT2 subtypes have unusual associated clinical features that are of interest and may help with diagnosis.

  • CMT2B - Poorly healing foot ulcers [75]

  • CMT2C - Diaphragm weakness and vocal cord paralysis [76]

  • CMT2D - Weakness and atrophy that is more severe in the hands than in the feet [54]

  • CMT2 associated with MPZ mutation - Late-onset axonal polyneuropathy with prominent sensory involvement, pupillary abnormalities, and hearing loss [77]


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