Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. OBJECTIVES: The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. METHODS: A systematic review of the literature was conducted, followed by a qualitative study using semistructured interviews and discussion groups to obtain the experience of people affected. RESULTS: According to the PROMIS framework, the results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the physical manifestations of the disease most often cited by participants. Negative affects such as frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. CONCLUSIONS: These findings shed new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health.