French Register of Patients With Spinal Muscular Atrophy

As secondary objectives, the study aims: * to estimate the frequencies of patients with SMA 5q types 1 through 4 who have being treated in the reference centers between September 1 2016 and August 31 2024; * to describe overall demographic, familial, clinical, biological, and genetic characteristics of SMA 5q patients treated in all regions of France, by the type of SMA (type 1,2,3, and 4); * to study the impact of proactive and symptomatic medical interventions (bracing, IPPB devices) and medications (vaccinations, anti-infectious, digestive, nutritional supplements) in the evolution of patients; * to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of SMA 5q in treated and untreated populations, by new available therapies, throughout the register; * to study mortality rate of SMA 5q in treated and untreated populations, by new available therapies, throughout the register; * to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments; * to evaluate prognostic factors of responses to therapies; * to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events); * to estimate the costs of care for SMA 5q patients in different groups (types, ages); * to provide needful elements to evaluate the health care costs for the disease; * to study the autonomy and the quality of life of patients depending on different therapeutic strategies; * to study the impact of the disease on caregivers; * to facilitate development of scientific research on SMA in the conduct of trials on new therapeutic strategies.