在Charcot-Marie-Tooth 1A型神经病中，使用计时Up和Go测试和补充措施对跌倒风险的多维评估

IF 2 Q2 REHABILITATION

Archives of rehabilitation research and clinical translation Pub Date : 2026-06-01 Epub Date: 2026-01-01 DOI:10.1016/j.arrct.2025.100581

Héloïse Ferrandon-Berne MD , Mathilde Pelletier Visa MSc , Lech Dobija PT, PhD , Maxime Grolier MD , Frederic Costes MD, PhD , Frédéric Taithe MD , Vivien Reynaud MD , Bruno Pereira PhD , Emmanuel Coudeyre MD, PhD

{"title":"在Charcot-Marie-Tooth 1A型神经病中，使用计时Up和Go测试和补充措施对跌倒风险的多维评估","authors":"Héloïse Ferrandon-Berne MD , Mathilde Pelletier Visa MSc , Lech Dobija PT, PhD , Maxime Grolier MD , Frederic Costes MD, PhD , Frédéric Taithe MD , Vivien Reynaud MD , Bruno Pereira PhD , Emmanuel Coudeyre MD, PhD","doi":"10.1016/j.arrct.2025.100581","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><div>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).</div></div><div><h3>Design</h3><div>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.</div></div><div><h3>Setting</h3><div>This study was conducted at a university hospital.</div></div><div><h3>Participants</h3><div>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.</div></div><div><h3>Interventions</h3><div>Not applicable.</div></div><div><h3>Main outcome measures</h3><div>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.</div></div><div><h3>Results</h3><div>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 (<em>P</em>=.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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":72291,"journal":{"name":"Archives of rehabilitation research and clinical translation","volume":"8 2","pages":"Article 100581"},"PeriodicalIF":2.0000,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Multidimensional Assessment of Fall Risk Using the Timed Up and Go Test and Complementary Measures in a Charcot-Marie-Tooth Type 1A Neuropathy\",\"authors\":\"Héloïse Ferrandon-Berne MD , Mathilde Pelletier Visa MSc , Lech Dobija PT, PhD , Maxime Grolier MD , Frederic Costes MD, PhD , Frédéric Taithe MD , Vivien Reynaud MD , Bruno Pereira PhD , Emmanuel Coudeyre MD, PhD\",\"doi\":\"10.1016/j.arrct.2025.100581\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><div>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).</div></div><div><h3>Design</h3><div>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.</div></div><div><h3>Setting</h3><div>This study was conducted at a university hospital.</div></div><div><h3>Participants</h3><div>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.</div></div><div><h3>Interventions</h3><div>Not applicable.</div></div><div><h3>Main outcome measures</h3><div>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.</div></div><div><h3>Results</h3><div>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 (<em>P</em>=.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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>\",\"PeriodicalId\":72291,\"journal\":{\"name\":\"Archives of rehabilitation research and clinical translation\",\"volume\":\"8 2\",\"pages\":\"Article 100581\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2026-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of rehabilitation research and clinical translation\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2590109525001557\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2026/1/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"REHABILITATION\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of rehabilitation research and clinical translation","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590109525001557","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/1/1 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"REHABILITATION","Score":null,"Total":0}

引用次数: 0

摘要

目的探讨1A型腓骨肌痛（CMT1A）患者的跌倒发生与拔腿时间（TUG）的关系。我们对成年CMT1A患者进行了一项纵向、单中心、探索性研究，随访1年。在基线、6个月和12个月时进行身体、功能和分析测试，包括TUG测试、步态分析和肌肉力量评估。患者还完成了关于身体能力、疲劳、跌倒以及对生活质量和心理健康的影响的问卷调查。该研究于2020年9月至2025年2月期间进行。本研究在一所大学医院进行。参与本研究的患者（n=40）必须是成年人，经分子生物学确诊为CMT1A，股四头肌力量为2 / 5，并精通法语口语和书面理解。InterventionsNot适用。主要结局指标主要结局指标是完成TUG测试所需的时间（以秒为单位），根据自我报告跌倒的频率进行分析。次要结果测量包括用Berg平衡量表（BBS）评估平衡表现和通过6分钟步行测试（6MWT）评估步行耐力。在基线、6个月和12个月时进行物理、功能和分析测试。我们纳入了40例CMT1A患者，主要是女性（62.5%），中位年龄（四分位数范围）为52岁（42-67）岁。根据跌倒频率对TUG测试结果进行分析，结果显示，两组（未跌倒、1-2次跌倒和>；2次跌倒）的中位（四分位数范围）时间分别为9.3（6.9-10.8）、9.0（7.5-10.4）和9.5（7.8-11.0）秒，差异无统计学意义（P=.710）。基线时的中位BBS和6MWT值分别为52（47-55）和422 (335-480)m，随访1年后无显著变化。结论当单独使用时，TUG试验并不是筛查CMT1A患者跌倒风险的合适工具。平衡（BBS）和步行耐力（6MWT）在1年内也保持稳定。全球评估对于发现身体损伤和预防跌倒至关重要。未来的研究可能包括更大的样本和更精确的跌倒分类。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

查看原文本刊更多论文

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

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊