Sushma Alphonsa*, Ryan Wuebbles, Takako Jones, Phil Pavilionis, Nicholas Murray

Alphonsa et al. J Clin Transl Res 2022; 8(2):7

Published online: March 19, 2022

Abstract

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disorder leading to progressive muscle loss over time. Research indicates that this progressive muscular atrophy can negatively impact spatio-temporal gait characteristics, but this is not always the case during early-onset or mild cases of the disease. Additionally, the performance of a secondary task during overground walking may elucidate greater deficits in spatio-temporal characteristics of gait. However, such dual task effects on FSHD gait have not been studied thus far.
Aim: The current study aimed to (A) quantify changes in spatio-temporal gait parameters in individuals with FSHD using the Tekscan Strideway gait mat system, (B) measure the dual task effects on cadence and gait velocity during single task (ST) and dual task (DT) overground walking in FSHD and healthy controls and (C) investigate the correlation between the gait parameters and the methylation status in FSHD. Methods: Nine FSHD (M ± SD = 52.78 ± 14.69 years) and nine nearly matched healthy controls (M ± SD = 50.11 ± 16.18 years) performed five ST and five DT walking in a pseudo-randomized order. The DT included a serial 7’s subtraction task from a random number between 50-100. Dependent variables: cadence (steps/min) and gait velocity (cm/sec) were obtained from Tekscan Strideway (30Hz, Boston, MA).
Results: The pairwise comparison indicated that cadence was significantly different for both ST (p<0.004) and DT (p<0.02) where FSHD showed lower cadence compared to controls. Gait velocity was also significantly lower for FSHD during ST (p<0.004) and DT (p<0.008). Multilevel modeling (MLM) approach revealed a group by task interaction for cadence (p<0.05) and gait velocity (p<0.001). The interaction showed a significant difference between ST and DT in controls for cadence and gait velocity. However, there was no difference between ST and DT in FSHD. Finally, a comparison of methylation percentage versus gait parameters revealed a significant negative correlation coefficient for cadence but not for gait velocity.
Conclusion: These results indicate specific pairwise differences in both ST and DT walking, observed in the gait parameters as decreased cadence and gait velocity during ST and DT. Additionally, the MLM showed that controls exhibited the dual task cost as expected but FSHD did not for cadence and gait velocity.
Relevance for patients: ST appears to be sufficiently challenging in FSHD and results in overall declines in spatio-temporal characteristics of gait. Further research is needed to test this paradigm with early-onset or mild cases to track disease progression and its effects on ambulation.

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DOI: http://dx.doi.org/10.18053/jctres.08.202202.007

Author affiliation

1. Department of Pharmacology, School of Medicine, University of Nevada, Reno, 89557, USA
2. Kinesiology, School of Public Health, University of Nevada, Reno, 89557, USA

*Corresponding author 
Sushma Alphonsa
Department of Pharmacology, School of Medicine, University of Nevada, Reno, 89557, USA
Email: salphonsa@unr.edu

Handling editor:
Michal Heger
Department of Pharmaceutics, Utrecht University, the Netherlands
Department of Pharmaceutics, Jiaxing University Medical College, Zhejiang, China

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