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

Authors: R, Sivera Mascaró; T, García Sobrino; A, Horga Hernández; A L, Pelayo Negro; A, Alonso Jiménez; A, Antelo Pose; M D, Calabria Gallego; +28 Authors

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

Abstract

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.

Keywords

Sistema nerviós - Malformacions - Diagnòstic, DISEASES::Nervous System Diseases::Nervous System Malformations::Hereditary Sensory and Motor Neuropathy::Charcot-Marie-Tooth Disease, Sistema nerviós - Malformacions - Tractament, Disease Management, ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades, Other subheadings::Other subheadings::/diagnosis, Otros calificadores::Otros calificadores::/diagnóstico, Charcot-Marie-Tooth Disease, Spain, Humans, Sistema nerviós - Malalties - Diagnòstic, Sistema nerviós - Malalties - Tractament, HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management, ENFERMEDADES::enfermedades del sistema nervioso::malformaciones del sistema nervioso::neuropatía sensitiva y motora hereditaria::enfermedad de Charcot-Marie-Tooth

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Top 10%
Average
Top 10%
Green
gold
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