What causes 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

Please see the Pathophysiology section for a more thorough overview.

  • CMT1A -PMP22 duplication on chromosome 17

  • CMT1B -MPZ mutation on chromosome 1

  • CMT2A - MFN2 mutation on chromosome 1 (most common cause)

  • CMTX1 -Cx32 on the X chromosome

  • Dejerine-Sottas - Linked to mutations in MPZ, PMP22, Cx32, or EGR2 on chromosome 10

  • Dominantly inherited intermediate CMT - Genetically heterogeneous (Specific Cx32, MPZ, GDAP1, tyrosyl-tRNA synthetase (YARS), and neurofilament light chain (NF-L) mutations can cause velocities and morphologic changes that fall between CMT1 and CMT2. [78, 79, 80, 81, 82] )

Many mutations are not found with current genetic testing. Out of 153 patients with inherited neuropathies, a mutation was not found in 50 (32.7%). [42] A more recent study of 6 families with late-onset axonal neuropathies showed no mutations in an extensive screen of 9 genes known to cause CMT. [83]


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