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October 2022; 12 (5) Research Article

Virtual Charcot-Marie-Tooth Examination Score

A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease

Valeria Prada, Matilde Laurà, Riccardo Zuccarino, Mary M. Reilly, View ORCID ProfileMichael E. Shy
First published August 31, 2022, DOI: https://doi.org/10.1212/CPJ.0000000000200070
Valeria Prada
From the University of Iowa (V.P., M.E.S.), Carver College of Medicine, Iowa City, IA; FISM (V.P.), Fondazione italiana Sclerosi Multipla, Genova, Italy; Department of Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom; and Centro Clinico NeMO Trento (R.Z.), Fondazione Serena ONLUS, Pergine Valsugana (Trento), Italy.
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Matilde Laurà
From the University of Iowa (V.P., M.E.S.), Carver College of Medicine, Iowa City, IA; FISM (V.P.), Fondazione italiana Sclerosi Multipla, Genova, Italy; Department of Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom; and Centro Clinico NeMO Trento (R.Z.), Fondazione Serena ONLUS, Pergine Valsugana (Trento), Italy.
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Riccardo Zuccarino
From the University of Iowa (V.P., M.E.S.), Carver College of Medicine, Iowa City, IA; FISM (V.P.), Fondazione italiana Sclerosi Multipla, Genova, Italy; Department of Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom; and Centro Clinico NeMO Trento (R.Z.), Fondazione Serena ONLUS, Pergine Valsugana (Trento), Italy.
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Mary M. Reilly
From the University of Iowa (V.P., M.E.S.), Carver College of Medicine, Iowa City, IA; FISM (V.P.), Fondazione italiana Sclerosi Multipla, Genova, Italy; Department of Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom; and Centro Clinico NeMO Trento (R.Z.), Fondazione Serena ONLUS, Pergine Valsugana (Trento), Italy.
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Michael E. Shy
From the University of Iowa (V.P., M.E.S.), Carver College of Medicine, Iowa City, IA; FISM (V.P.), Fondazione italiana Sclerosi Multipla, Genova, Italy; Department of Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom; and Centro Clinico NeMO Trento (R.Z.), Fondazione Serena ONLUS, Pergine Valsugana (Trento), Italy.
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  • ORCID record for Michael E. Shy
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Citation
Virtual Charcot-Marie-Tooth Examination Score
A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease
Valeria Prada, Matilde Laurà, Riccardo Zuccarino, Mary M. Reilly, Michael E. Shy
Neurol Clin Pract Oct 2022, 12 (5) e98-e104; DOI: 10.1212/CPJ.0000000000200070

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Abstract

Background and Objectives The Charcot-Marie-Tooth Examination Score (CMTES) has been used since 2005 in clinics to measure impairment in patients with CMT and has provided natural history data for patients with CMT1A, CMT1B, CMTX1, CMT2A, and many other subtypes. However, the CMTES requires an in-person visit, and many individuals are unable to travel to CMT centers because of the distance from the clinic or physical disability or more recently because of COVID-19 restrictions. We therefore developed the virtual CMTES (vCMTES) as outlined below. The aim of this study is to create a remote clinical outcome assessment to measure impairment in patients with CMT.

Methods We modified the CMTESv2 replacing the pinprick and vibration items with light touch and position sense, which can be performed remotely by the patient or the patient with an assistant while being observed by the clinic evaluator. Motor evaluations were performed similar to CMTESv2 by the assistant or the patient, while being observed remotely. We developed a standardized protocol to be used with Zoom or a similar format, a training and certification program, and enabled the vCMTES data to be housed in the Inherited Neuropathy Consortium databases. Patients were evaluated in person and remotely for interexaminer and intraexaminer studies.

Results Sixty-four patients with genetically confirmed CMT were evaluated by vCMTES and CMTESv2; 53 patients were evaluated virtually 3 weeks after their initial examination. Ten patients were evaluated with the vCMTES by different examiners 5 days apart. CMTESv2 correlates strongly with the vCMTES in person and virtually (p < 0.0001). There was a strong correlation between the vCMTES made in person and virtually (p < 0.0001). Similar results were obtained comparing symptoms score items, sensory items, and motor items. Interclass correlation coefficients (ICCs) were ≥0.92.

Discussion Statistical analyses demonstrated that the vCMTES was reproducible and reliable as a clinical outcome assessment for CMT. Further studies are needed to test responsiveness to change and progression in different subtypes. The vCMTES also offers the potential to reach diverse populations that do not have access to CMT centers.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • Submitted and externally peer reviewed. The handling editor was Associate Editor Jack W. Tsao, MD, DPhil, FAAN.

  • Received April 5, 2022.
  • Accepted June 27, 2022.
  • © 2022 American Academy of Neurology
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