Multidimensional Assessment of Fall Risk Using the Timed Up and Go Test and Complementary Measures in a Charcot-Marie-Tooth Type 1A Neuropathy

Abstract

Objective

To investigate the relationship between the occurrence of falls and the time taken to perform the Timed Up and Go (TUG) test in a population of patients with Charcot-Marie-Tooth disease type 1A (CMT1A).

Design

We conducted a longitudinal, single-center, exploratory study involving adult patients with CMT1A, followed for 1 year. Physical, functional, and analytical tests, including the TUG test, gait analysis, and muscle strength assessment, were performed at baseline, 6 months, and 12 months. Patients also completed questionnaires on physical capabilities, fatigue, falls, and the impact on quality of life and psychological health. The study was conducted between September 2020 and February 2025.

Setting

This study was conducted at a university hospital.

Participants

Patients (n=40) included in this study had to be adults, have a molecular biology-confirmed diagnosis of CMT1A, have quadriceps strength >2 of 5, and have a proficient oral and written understanding of French.

Interventions

Not applicable.

Main outcome measures

The primary outcome was the time (in s) required to complete the TUG test, analyzed according to the frequency of self-reported falls. Secondary outcome measures included balance performance assessed with the Berg Balance Scale (BBS) and walking endurance evaluated by the distance covered during the 6-minute walk test (6MWT). Physical, functional, and analytical tests were conducted at baseline, 6 months, and 12 months.

Results

We included 40 patients with CMT1A, predominantly women (62.5%), with a median (interquartile range) age of 52 (42-67) years. Analysis of the TUG test results according to fall frequency revealed no significant difference between groups (no fall, 1-2 falls, and >2 falls) with respect to the median (interquartile range) time: 9.3 (6.9-10.8), 9.0 (7.5-10.4), and 9.5 (7.8-11.0) seconds, respectively (P=.710). Median BBS and 6MWT values at baseline were 52 (47-55) and 422 (335-480) m, respectively, showing no significant change after 1 year of follow-up.

Conclusions

When used alone, the TUG test is not a suitable tool for fall risk screening in patients with CMT1A. Balance (BBS) and walking endurance (6MWT) also remained stable over 1 year. Global assessment is crucial for detecting physical impairments and preventing falls. A future study could include a larger sample and a more precise categorization of falls.