Laurent Magy1, Stéphane Mathis2, Gwendal Le Masson2, Cyril Goizet2, Meriem Tazir2, Jean-Michel Vallat2. 1. From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria. laurent.magy@unilim.fr. 2. From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.
Abstract
OBJECTIVE: 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. METHODS: We recently published a proposal to update the classification of inherited neuropathies. The reactions from colleagues prompted us to diffuse the proposal and ask people if they would be ready for such a change. We therefore 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). RESULTS: Of the 107 CMT specialists who answered the survey, 65% considered that changes are needed and that our proposals constituted an improvement over the historical classification of CMT. CONCLUSIONS: Based on recent proposals in the medical literature, these results highlight that most specialists think that changes are needed to the classification of CMT.
OBJECTIVE: 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. METHODS: We recently published a proposal to update the classification of inherited neuropathies. The reactions from colleagues prompted us to diffuse the proposal and ask people if they would be ready for such a change. We therefore 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). RESULTS: Of the 107 CMT specialists who answered the survey, 65% considered that changes are needed and that our proposals constituted an improvement over the historical classification of CMT. CONCLUSIONS: Based on recent proposals in the medical literature, these results highlight that most specialists think that changes are needed to the classification of CMT.
Authors: Jonathan R Volpatti; Almundher Al-Maawali; Lindsay Smith; Aqeela Al-Hashim; Julie A Brill; James J Dowling Journal: Dis Model Mech Date: 2019-08-13 Impact factor: 5.758