A Home-based Rehabilitation in ARSACS (PACE-ARSCS)

A Home-based Rehabilitation Program to Counter the Motor Impairments and Activity Limitations Experienced by People With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

48 participants (24 women and 24 men) with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) will participate in 2 phases : control phase (12-week usual care) and intervention phase (12-week home-based rehabilitation program). The participants will be evaluated at baseline, week 12 (end of control phase) and week 24 (end of intervention phase) to quantify the effects of an individualized home-based rehabilitation program. Participants will also participate on a focus group at the end of the program to evaluate the acceptability of the program and the perceived changes.

Co-creation phase: Preceding the intervention, a co-creation phase involving healthcare professionals (3), patient-partners (2), and ARSACS researchers (3) will be conducted to develop the exercises for the rehabilitation program and the evaluation scale to determine the level of difficulty of each exercise assigned to participants. Intervention phase: Random sampling stratified by gender and level of indoor mobility (unassisted walking, assisted walking, wheelchair) from the Neuromuscular Clinic's registry of 48 participants (24 women and 24 men) will be conducted. Control phase: All participants will be asked to maintain their usual activities for 12 weeks. Intervention phase: All participants recruited to the project will complete the home-based rehabilitation program assigned to them for 12 weeks, unsupervised, 20 minutes 3 times a week. Follow-up calls by a physiotherapist will be conducted at weeks 2, 4, 6, 8, 10 and 12.

Participants will participate in 2 phases : control phase (12-week usual care) followed by an intervention phase (12-week home-based rehabilitation program).

All participants will participate in 2 phases : control phase (12-week usual care) followed by an intervention phase (12-week home-based rehabilitation program). The rehabilitation program consists of three domains of exercises divided by levels of difficulty: sitting balance (16 levels), standing balance (21 levels) and sit-to-stand transfer (12 levels), including 67 exercises. Each individualized home-based rehabilitation program will include 3 to 6 exercises, for a total duration of 15 to 20 minutes.

Change in the walking speed, measured with the time to walk 10 meters at self-selected and maximum speed

Measured with the modified Activities-specific Balance Confidence (ABC) Scale, score range 0-100, 0 indicates no confidence and 100 is full confidence

Number of touched targets in a 30 second period with each foot, measured with the Lower Extremity MOtor COordination Test (LEMOCOT)

Measured with the Life Space Assessment (LSA), score range 0-120, a higher score indicates higher level of mobility in the next five areas: outside the bedroom, outside the house, in the neighborhood, outside of the neighborhood but in town, and outside town during the past four weeks

Number of finger touched targets in a 20 second period of each side, measured with the Standardized Finger-Nose Test (SFNT)

The performance in activities of daily living, measured with the Assessment of Life Habits (LIFE-H), score range 0-9

Measured with the Scale for the assessment and rating of ataxia (SARA), score range 0-40, higher score indicates higher ataxia severity

Measured with the French System Usability Scale (F-SUS), original score range 0-40 converted to 0-100, a SUS score above a 68 would be considered above average and anything below 68 is below average

Sum of the spasticity results obtained for the adductor hip, knee extensor, knee flexor and plantar flexor muscle groups

Inclusion Criteria: ARSACS diagnosis must be confirmed by genetic analysis; Women and men, aged between 18 and 50 years old; Be able to perform the sit-to-stand transfer; Consent of the neurologist must be given to participate in this study; Must reside in the Saguenay-Lac-St-Jean region; Subjects must be able to give their consent freely and voluntarily. Exclusion Criteria: Patients who already meet physical activity (PA) recommendations (150 min of moderate to high intensity PA/week) or already participate in a rehabilitation program are excluded; Remain in a care facility; Do not speak English or French; Have another diagnosis causing physical limitations; Are pregnant.