What is the role of CSF analysis in the diagnosis 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

Examination of the CSF is usually normal except for an elevated CSF protein. More marked elevations of protein are routinely seen in Dejerine-Sottas syndrome and may be more common in forms of CMT with MPZ mutations. [4, 87, 43]


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