CHARCOT-MARIE-TOOTH-DISEASE - ELECTROMYOG RAPHY IS STILL USEFUL IN DIAGNOSIS AND CLASSIFICATION

Genetic heterogeneity was known for a long time in Charcot-Marie-Tooth disease (CMT). The recent findings in molecular biology emphasized th e distinction in different types of the disease. Nevertheless, electro physiological examinations are of a great interest to detect asymptoma tic patients, to classify the different forms and to make correlations with the clinical and histological features. Current classification i s based on genetic and electrophysiologic data. CMT1, or hypertrophic form in which mutations or a duplication were found on chromosome 17 i s the most frequent (CMT1A), CMT2 is the neuronal form, CMT3 is termed the Dejerine-Sottas disease, CMT3 recessive forms, CMT5 a form with a ssociated pyramidal features and CMTX. The electrophysiologic aspects of these different types are reported.