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

  1. Sivera Mascaró, R. 2
  2. García Sobrino, T.
  3. Horga Hernández, A.
  4. Pelayo Negro, A.L.
  5. Alonso Jiménez, A.
  6. Antelo Pose, A.
  7. Calabria Gallego, M.D.
  8. Casasnovas, C.
  9. Cemillán Fernández, C.A.
  10. Esteban Pérez, J.
  11. Fenollar Cortés, M.
  12. Frasquet Carrera, M.
  13. Gallano Petit, M.P.
  14. Giménez Muñoz, A.
  15. Gutiérrez Gutiérrez, G. 1
  16. Gutiérrez Martínez, A.
  17. Juntas Morales, R.
  18. Ciano-Petersen, N.L.
  19. Martínez Ulloa, P.L.
  20. Mederer Hengstl, S.
  21. Millet Sancho, E.
  22. Navacerrada Barrero, F.J.
  23. Navarrete Faubel, F.E.
  24. Pardo Fernández, J.
  25. Pascual Pascual, S.I.
  26. Pérez Lucas, J.
  27. Pino Mínguez, J.
  28. Rabasa Pérez, M.
  29. Sánchez González, M.
  30. Sotoca, J.
  31. Rodríguez Santiago, B.
  32. Rojas García, R.
  33. Turon-Sans, J.
  34. Vicent Carsí, V.
  35. Sevilla Mantecón, T. 2
  36. Show all authors +
  1. 1 Universidad Europea de Madrid
    info

    Universidad Europea de Madrid

    Madrid, España

    ROR https://ror.org/04dp46240

  2. 2 Hospital Universitario La Fe
    info

    Hospital Universitario La Fe

    Valencia, España

    ROR https://ror.org/01ar2v535

Journal:
Neurología (English Edition)

ISSN: 2173-5808

Year of publication: 2024

Type: Article

DOI: 10.1016/J.NRLENG.2024.02.008 GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Neurología (English Edition)

Abstract

Introduction: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiologicaland 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, andtreatment of this disease in Spain.Material and methods: These consensus guidelines were developed through collaboration bya multidisciplinary panel encompassing a broad group of experts on the subject, includingneurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.Recommendations: The diagnosis of CMT is clinical, with patients usually presenting a commonor classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should beincluded. Genetic diagnosis should be approached sequentially; once PMP22 duplication hasbeen ruled out, if appropriate, a next-generation sequencing study should be considered, takinginto account the limitations of the available techniques. To date, no pharmacological diseasemodifying treatment is available, but symptomatic management, guided by a multidiciplinaryteam, is important, as is proper rehabilitation and orthopaedic management. The latter shouldbe initiated early to identify and improve the patient’s functional deficits, and should includeindividualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, andancillary testing is not necessary in routine clinical practice

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