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From the Department of Neurology (Drs. Shy, Fuerst, Li, and Lewis, K. Krajewski), Center for Molecular Medicine and Genetics (Dr. Shy and K. Krajewski), Wayne State University, Detroit, MI; Centre for Neuromuscular Diseases and Department for Molecular Neurosciences (J. Blake and Drs. Laura and Reilly) National Hospital for Neurology and Neurosurgery and Institute of Neurology, London, UK; Department of Clinical Neurophysiology (J. Blake), Norfolk and Norwich University Hospital, Norwich, UK; London Health Sciences Center, Department of Neurology (Dr. Hahn), University of Western Ontario, London, Ontario, Canada; and University of Messina (Dr. Laura), Messina, Italy.
Address correspondence and reprint requests to Dr. Michael E. Shy, Department of Neurology, Wayne State University, 421 Ea Canfield, Elliman 3206, Detroit, MI 48201; e-mail: m.shy{at}wayne.edu
Objective: To determine the validity and reliability of the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy.
Background: Natural history studies and potential treatment trials for patients with various forms of CMT are limited by the lack of quantitative methodologies to monitor disease progression. Most cases of CMT can be considered length-dependent axonal neuropathies because disability for even the demyelinating forms correlates with length-dependent axonal degeneration. The total neuropathy score (TNS) is a validated composite measure of disability in length-dependent axonal neuropathies but is weighted toward predominantly sensory neuropathies. Thus, the authors have devised a CMTNS, modified from the TNS, to provide a single measure to quantify CMT disability.
Methods: The authors measured inter- and intrainvestigator reliability of the CMTNS and performed a validation of the score with the Neuropathy Impairment Score (NIS), patient self-assessment scores, an ambulation index, and other measures of disability.
Results: Inter- and intrainvestigator reliability was more than 95% in the 60 patients evaluated. Patients could be divided into mild (CMTNS, 
10), moderate (CMTNS, 11 to 20), and severe (CMTNS, 
21) categories and demonstrated excellent correlations among all measures of disability.
Conclusion: The Charcot-Marie-Tooth disease (CMT) neuropathy score is a validated measure of length-dependent axonal and demyelinating CMT disability and can be investigated as an end point for longitudinal studies and clinical trials of CMT.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 12 issue to find the title link for this article.
Supported by grants from the NIH (1 R01 NS43560-01A1 and R01 NS41319A) and Charcot-Marie-Tooth Association.
Received April 9, 2004. Accepted in final form December 17, 2004.
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