With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.
The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.
Genetically confirmed infantile or juvenile spinal muscular atrophy
Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec)
Aged 0 to 15 years inclusive
Informed consent signed by both parent(s)/legal guardian(s) and patient's assent
Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease
Other associated neurological disease
Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion).