Charcot Marie Tooth disease (CMT): investigations
Evidence-based neurology checklist on charcot marie tooth disease (cmt): investigations: 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…
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
Neurophysiological classification of CMT
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.
