Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease
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Sivera Mascaró, R.
García Sobrino, T.
Horga Hernández, A.
Pelayo Negro, A. L.
Alonso Jiménez, A.
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Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.
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Sivera Mascaró, R., García Sobrino, T., Horga Hernández, A., Pelayo Negro, A. L., Alonso Jiménez, A., Antelo Pose, A., Calabria Gallego, M. D., Casasnovas, C., Cemillán Fernández, C. A., Esteban Pérez, J., Fenollar Cortés, M., Frasquet Carrera, M., Gallano Petit, M. P., Giménez Muñoz, A., Gutiérrez Gutiérrez, G., Gutiérrez Martínez, A., Juntas Morales, R., Ciano-Petersen, N. L., Martínez Ulloa, P. L., … Sevilla Mantecón, T. (2025). Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Neurología (English Edition), 40(3), 290-305. https://doi.org/10.1016/j.nrleng.2024.02.008




