Quality of Life and Participation of the Adult with Spinal Muscular Atrophy in France

Specificities of Quality of Life and Influence of Participation on the Quality of Life of the Adult with Spinal Muscular Atrophy in France: a Cross-sectional Study

Spinal muscular atrophy is a hereditary motorneuron disease caused by a mutation of the SMN1 gene, which is at the origin of a progressive limb and axial motor deficiency. It concerns 1200 individuals in France, including 700 adults in 2018. The main objective of this study is to assess the quality of life of SMA patients in France.

The secondary objectives are, in one hand, to compare the quality of life of SMA patients to a population of neuromuscular diseases patients. And on the other hand to evaluate the determinants of participation and the impact of participation on quality of life in adult SMA patients.

Inclusion Criteria:

• Patient with SMA type 1, 2, 3 or 4
• ≥ 18 years old
• giving informed consent to participate to the study
• patients from the study of Dany et al "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease" (2015)

Exclusion Criteria:

• patients who do not complete ≥ 80% of the questionnaire)-