Updating the classification of inherited neuropathies

 

The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised. The authors of the present study have recently published a proposal to update the classification of inherited neuropathies. Following positive feedback from the proposal, they performed an internet survey (from October 1, 2016, to December 1, 2016) that included more than 300 CMT worldwide specialists (practitioners and scientists) from various countries. A questionnaire (with proposals to update and simplify the way in which CMT is classified) was sent by e-mail to all participants in the last International Charcot-Marie-Tooth and Related Neuropathy Consortium meeting held in Venice, September 8-10, 2016 (as identified through an e-mail list. Of the 107 CMT specialists who answered the survey, 65% considered that changes are needed and that their proposals constituted an improvement over the historical classification of CMT.

Magy L, Mathis S, Le Masson G, et al. Updating the classification of inherited neuropathies: Results of an international survey. Neurology. 2018 Mar 6;90(10):e870-e876.