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Neuromuscular
Review
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
  1. Eppie M Yiu1,2,3,
  2. Paula Bray4,5,
  3. Jonathan Baets6,7,8,
  4. Steven K Baker9,
  5. Nina Barisic10,
  6. Katy de Valle1,2,
  7. Timothy Estilow11,12,
  8. Michelle A Farrar13,14,
  9. Richard S Finkel15,
  10. Jana Haberlová16,
  11. Rachel A Kennedy1,2,3,
  12. Isabella Moroni17,
  13. Garth A Nicholson18,19,
  14. Sindhu Ramchandren20,
  15. Mary M Reilly21,
  16. Kristy Rose22,
  17. Michael E Shy23,
  18. Carly E Siskind24,
  19. Sabrina W Yum25,26,
  20. Manoj P Menezes27,28,
  21. Monique M Ryan1,2,3,
  22. Joshua Burns4,5
  1. 1 Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  2. 2 Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  3. 3 Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia
  4. 4 Paediatric Gait Analysis Service of New South Wales, Orthopaedics Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia
  5. 5 School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia
  6. 6 Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium
  7. 7 Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Edegem, Antwerp, Belgium
  8. 8 Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, Belgium
  9. 9 Peripheral Neuropathy Clinic, McMaster University, Hamilton, Ontario, Canada
  10. 10 National Referral Centre for Pediatric Neuromuscular Disorders, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
  11. 11 Department of Occupational Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  12. 12 Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
  13. 13 Department of Neurology, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia
  14. 14 School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia
  15. 15 Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA
  16. 16 2nd Medical School, Motol University Hospital, Prague, Praha, Czech Republic
  17. 17 Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Lombardia, Italy
  18. 18 Centre for Motor Neurone Disease Research, Macquarie University, Sydney, New South Wales, Australia
  19. 19 Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia
  20. 20 Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, New Jersey, USA
  21. 21 Queen Square for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UK
  22. 22 Discipline of Physiotherapy, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia
  23. 23 Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
  24. 24 Department of Neurology, Stanford Health Care, Stanford, California, USA
  25. 25 Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  26. 26 Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  27. 27 Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia
  28. 28 Paediatrics and Child Health, The University of Sydney, Sydney, New South Wales, Australia
  1. Correspondence to Dr Eppie M Yiu, Neurology department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; eppie.yiu{at}rch.org.au

Abstract

Background and objectives Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the optimal management of common problems experienced by individuals with CMT do not exist, for either children or adults. We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT, with the primary objective of promoting optimal, standardised care globally.

Methods Development of this clinical practice guideline involved a series of systematic reviews covering 10 clinical questions, modified Delphi methodology involving an international panel of clinicians to generate consensus where evidence did not exist, and application of the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach to evaluate the body of literature and formulate recommendations.

Results The final guideline includes three evidence-based and 31 consensus-based recommendations. They encompass the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, maintenance of joint range of motion and non-surgical management of joint deformity. Consensus was not achieved in some management areas, reflecting differences in practice between clinicians and healthcare settings, and highlighting the need for further research.

Conclusions This clinical practice guideline provides practical and implementable guidance on the management of common clinical problems experienced by children with CMT and advocates for improved access to multidisciplinary care. Successful dissemination and implementation of these recommendations will be critical in ensuring their application across multiple healthcare settings.

  • paediatric neurology
  • hmsn (Charcot-Marie-Tooth)
  • systematic reviews

https://doi.org/10.1136/jnnp-2021-328483

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    Footnotes

    • Correction notice This article has been corrected since it first published online. At the end of the acknowledgment section, 'CMT Rete’ has been corrected to ‘ACTM-Rete'.

    • Collaborators Membership of the Paediatric Charcot-Marie-Tooth disease Best Practice Guidelines Consortium: Eppie M Yiu (lead), Joshua Burns (deputy lead), Paula Bray (methods expert), Jonathan Baets, Steven K Baker, Nina Barisic, Katy de Valle, Timothy Estilow, Michelle A Farrar, Richard S Finkel, Jana Haberlova, Rachel A Kennedy, Manoj P Menezes, Isabella Moroni, Garth A Nicholson, Sindhu Ramchandren, Mary M Reilly, Kristy Rose, Monique M Ryan, Michael E Shy, Carly E Siskind and Sabrina W Yum.

    • Contributors EMY conceptualised the project, undertook the literature review, designed and analysed the survey, wrote the first draft, handled submission and was responsible for the final approval of the manuscript. J Burns conceptualised the project, undertook the literature review, designed and analysed the survey and was responsible for the final approval of the manuscript. PB conceptualised the project, designed and analysed the survey, acted as a methods expert during guideline development and was responsible for the final approval of the manuscript. J Baets, SKB, NB, KdV, TE, MAF, JH, RAK, IM, SR, KR and MPM contributed to the conception of the project, designed the survey, participated in the survey, revised the manuscript for intellectual content, and approved the final version of the manuscript. CES and SWY contributed to the conception of the project, designed the survey, revised the manuscript for intellectual content, and approved the final version of the manuscript. MoMR and GAN contributed to the conception of the project, participated in the survey, revised the manuscript for intellectual content, and approved the final version of the manuscript. RSF, MaMR and MES contributed to the conception of the project, revised the manuscript for intellectual content, and approved the final version of the manuscript.

    • Funding This work was supported by the National Health and Medical Research Council of Australia (NHMRC, National Centre for Research Excellence in Neuromuscular Disorders, number 1031893), and the NHMRC–European Union Collaborative Research Grant Scheme (Improving health outcomes for chronic rare diseases and reducing inequality of care, number 1055131, FP7 Rare Best Practice). EMY was supported by an NHMRC early career fellowship (APP1073323) during the course of this project. J Baets receives grant support from the Association Belge contre les Maladies Neuromusculaire (ABMM) - Aide à la Recherche ASBL (2017-2018/05), the EU FP7/2007-2013 under grant agreement number 2012-305121 (NEUROMICS) and the EU Horizon 2020 program (Solve-RD under grant agreement No 779257). J Baets is supported by a Senior Clinical Researcher mandate of the Research Fund—Flanders (FWO) under grant agreement number 1805021N. MAF receives grant support from the NHMRC (APP1194940). IM has previously received grant support from the CMT Rete (Italy). RSF receives grant support from the NIH and the CMT Association. MES receives grant support from the NIH (U54NS065712). SWY receives grant support from the Muscular Dystrophy Association.

    • Competing interests MES has received consulting fees or honoraria from Inflectis Bioscience, Passage Biosci and Mitochondria in Motion, Temple University and Albert Einstein Medical College, and is the Chair of the CMT and Related Disorders (CMTR) Consortium of the Peripheral Nerve Society. SR has been employed at the Janssen Pharmaceutical Companies of Johnson & Johnson since January 2021 and has restricted stock options. Her contributions to the paper were made prior to her current employment. IM is a board member of the CMTR Consortium of the Peripheral Nerve Society. CES is a voluntary advisory board member of the CMT Association. EMY, PB, JBa, SKB, NB, KdV, TE, MAF, RSF, JH, RAK, GAN, MaMR, KR, SWY, MPM, MoMR and JBu report no competing interests.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.