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Updated: Feb 5, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
Katy Eichinger1, Joshua Burns2, Kayla Cornett2
1From the Department of Neurology (K.E., J.M., J.S., D.N.H.), University of Rochester, NY; Faculty of Health Sciences & Children's Hospital at Westmead (J.B., K.C.), University of Sydney, Australia; and Departments of Neurology (C.B., M.E.S.), Physical Therapy (M.L.S.), and Pediatrics (R.S.), University of Iowa, Carver College of Medicine, Iowa City. Katy_eichinger@urmc.rochester.edu.
Objective:
The purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT disease.
Methods:
Adults with CMT type 1A (CMT1A) were recruited at the Universities of Rochester and Iowa. Participants were assessed using the CMT-FOM, CMT Exam Score (CMTES), and a symptom report. Test-retest reliability was examined using intraclass correlation coefficients, internal consistency using Cronbach α, and convergent and known-groups validity using Spearman rank analysis and the Mann-Whitney test.
Results:
Forty-three individuals (70% women; mean age 41, SD 14.9 years) participated. The CMT-FOM (mean 25.3 ± 8.7, range 12-44/52) was moderately correlated with the CMTES (ρ = 0.62; p < 0.0001) and exhibited acceptable reliability (intraclass correlation coefficient = 0.92) and internal consistency (Cronbach α = 0.81). The CMT-FOM discriminated between participants with clinically mild vs moderate-severe CMT1A. Participants with the mildest CMT1A who demonstrated a floor effect on the CMTES showed functional limitations on the CMT-FOM.
Conclusions:
The CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. It appears to be reliable, and our data support convergent and known-groups validity in adults with CMT1A. Longitudinal studies further examining the psychometric properties of the CMT-FOM and its responsiveness to change before its application in therapeutic trials are necessary.
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