Jira Kathryn, Jaworek Andrea, Allen Matti, Zhao Songzhu, Kelly Kristina, Arnold W David, Elsheikh Bakri
Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, United States.
Center for Biostatistics, The Ohio State University Wexner Medical Center, Columbus, OH, United States.
Front Neurol. 2024 Dec 4;15:1491466. doi: 10.3389/fneur.2024.1491466. eCollection 2024.
Fatigue and gait speed are established determinants of fall risk in patients with neurological disorders. However, data on adults with spinal muscular atrophy (SMA) is limited. The aim of this pilot study was to investigate falls and risk factors in adults with SMA.
A retrospective chart review of ambulatory adults with genetically confirmed 5q-SMA included: age, sex, age of symptom onset, SMN2 copy number, BMI, and 6MWT distance and speed at minutes 1, 2, and 6.
Fourteen ambulatory patients were included in the analysis with an average follow-up of 36 months (range of 12-66 months). 10 patients were classified as fallers (F) and four as non-fallers (NF). One faller received Risdiplam, while the remaining fallers and non-fallers received Nusinersen for the duration of the follow-up period. In the F cohort, the median speed at 1, 2, and 6 min were 0.92 m/s, 0.89 m/s, and 0.77 m/s, respectively, with a heterogeneous range including one faller at 1.25 m/s. In the NF cohort, the slowest collected median recorded speeds were 1.18 m/s, 1.11 m/s, and 1.09 m/s respectively, with one non-faller at 0.56 m/s. There was no significant statistical difference between 6-min gait speeds and individuals experiencing falls. However, we found a three-fold greater decline in speed between the 6MWT first and last minute in the F (13.01%) compared to the NF (5.16%). 7 of 10 patients had multiple falls (70%) with two individuals consequently losing ambulation (20%).
These findings underscore the need for larger studies on fatigability and the importance of considering factors beyond gait speed alone.
疲劳和步速是神经疾病患者跌倒风险的既定决定因素。然而，关于成年脊髓性肌萎缩症（SMA）患者的数据有限。这项初步研究的目的是调查成年SMA患者的跌倒情况及风险因素。
对基因确诊为5q-SMA的非卧床成年患者进行回顾性病历审查，内容包括：年龄、性别、症状出现年龄、SMN2拷贝数、体重指数，以及第1、2和6分钟时的6分钟步行试验（6MWT）距离和速度。
14名非卧床患者纳入分析，平均随访36个月（范围为12 - 66个月）。10名患者被归类为跌倒者（F），4名患者为非跌倒者（NF）。1名跌倒者接受了利司扑兰治疗，其余跌倒者和非跌倒者在随访期间接受了诺西那生治疗。在跌倒者队列中，第1、2和6分钟时的中位速度分别为0.92米/秒、0.89米/秒和0.77米/秒，范围不均一，其中一名跌倒者速度为1.25米/秒。在非跌倒者队列中，收集到的最慢中位记录速度分别为1.18米/秒、1.11米/秒和1.09米/秒，一名非跌倒者速度为0.56米/秒。6分钟步速与跌倒个体之间无显著统计学差异。然而，我们发现，与非跌倒者（5.16%）相比，跌倒者在6MWT第一分钟和最后一分钟之间的速度下降幅度大三倍（13.01%）。10名患者中有7名多次跌倒（70%），其中2名患者因此失去行走能力（20%）。
这些发现强调了对疲劳性进行更大规模研究的必要性，以及仅考虑步速之外因素的重要性。
