Intractable Rare Dis Res. 2018;7(3):164-171. (DOI: 10.5582/irdr.2018.01060)

Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study.

Audet O, Bui HT, Allisse M, Comtois AS, Leone M

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neuromuscular disorder caused by the mutation of the SACS gene. Clinical symptoms of this disease include progressive ataxia, spasticity, and peripheral neuropathy. Similar to other neuromuscular disorders, these patients are prone to physical deconditioning which may lead to a loss of functional capacity. This paper aims to evaluate the impact of a training program on the physical fitness and the functional capacity of ARSACS patients. Twelve patients (age: 28.1 ± 8.2 years) participated in this study. They followed an eight-week training program including physical activities, strength-power and aerobic training. Compared to the initial evaluation, measures of physical fitness and functional capacity were significantly improved (p ≤ 0.05) for 11 of the 12 tests. Positive gains were also observed for fall frequency and for upper-limb incoordination. This paper supports the importance of a training program for ARSACS patients in order to improve their quality of life. Through these types of interventions, it may be possible to slow down the progression of the disease and help maintain functional capacity.

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