Charcot Marie Tooth disease (CMT): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease (CMT): investigations. PMP22 for CMT1A, MFN2 for CMT2A, MPZ for CMT2A, MPZ for CMT1B. Fully referenced neurology checklist.
Initial genetic testing
- PMP22 for CMT1A
- MFN2 for CMT2A
- MPZ for CMT2A
- MPZ for CMT1B
- GJB1 for CMTX
- MPZ or PMP22 for CMTX
- These 4 genes account for >90% of cases
- Seek expert opinion if they are all negative
Genetic testing tools
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Neurophysiological classification of CMT
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References
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. JNNP 2012; 83:706-710.
- Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol 2015; 15:187-198.
