Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

Isabelle Lessard,Bernard Brais,Jean Mathieu,Luc J Hébert,Cynthia Gagnon,Raphaël St-Gelais,Isabelle Côté

doi:10.1186/s13023-021-02054-2

Abstract

BackgroundThis study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).ResultsTwenty-five participants were recruited with a mean age of 32.2 (± 10.4) years with 45.7% using a walking aid. There is a significant difference between participants with and without a walking aid in terms of lower limbs coordination, balance and mobility. Although participants who walk without a walking aid perform better than the others and they are below predictive or reference values. Despite significant mobility limitations, only mild spasticity and passive range of motion limitations were observed. However, there is a significant difference between unaffected individuals and participants with ARSACS for lower limb muscle cocontraction.ConclusionsResults show a high level of lower limb impairments, balance and mobility limitation in adults’ participants with ARSACS that are still walking, including people not using a walking aid. One of the most original finding is the presence of excessive cocontraction and a relatively mild level of spasticity in the lower limbs muscles. Results of this study better circumscribes the impairments and activities that should be the focus of intervention including rehabilitation in ARSACS.

Highlights

This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Participants Participants were recruited among a subset of 169 patients with ARSACS followed at the Neuromuscular Clinic of the Centre Intégré Universitaire de Santé et de Services Sociaux (CIUSSS) du Saguenay–Lac-St-Jean (Quebec, Canada)
Demographic and clinical characteristics From the 169 ARSACS patients followed at the neuromuscular clinic, 50 people met the inclusion criteria, Table 1 Characteristics of the study population (n = 35)

Summary

Introduction

This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [1] is the second most frequent recessive ataxia and caused by mutations in the SACS gene on chromosome 13q12 [2, 3]. ARSACS, originally described in 1978, is a progressive disorder mostly present in Quebec (Canada) with a prevalence of 1/1 932 in the Charlevoix and Saguenay-Lac-St-Jean regions due to a founder effect [1, 4]. In ataxic gait disorders, impaired mobility is an early predictor of activity limitations and associated with falls, decline in independence and quality of life, institutionalization, and death [11,12,13]

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