Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease

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...

Full description

Saved in:

Bibliographic Details
Published in:	Neurología (Barcelona, English ed. )
Main Authors:	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, Mederer Hengstl, S, Millet Sancho, E, Navacerrada Barrero, F J, Navarrete Faubel, F E, Pardo Fernández, J, Pascual Pascual, S I, Pérez Lucas, J, Pino Mínguez, J, Rabasa Pérez, M, Sánchez González, M, Sotoca, J, Rodríguez Santiago, B, Rojas García, R, Turon-Sans, J, Vicent Carsí, V, Sevilla Mantecón, T
Format:	Journal Article
Language:	English
Published:	Spain 01-03-2024
Subjects:	España Neuropatía hereditaria Charcot-Marie-Tooth disease hereditary neuropathy Enfermedad de Charcot-Marie-Tooth Spain
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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. The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.
Bibliography:	SourceType-Books-1 ObjectType-Article-1 content type line 6 ObjectType-Instructional Material/Guideline-2
ISSN:	2173-5808 2173-5808
DOI:	10.1016/j.nrleng.2024.02.008