German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored until now:
- the target population consisted of young children with SMA aged between 0 and 24 months,
- after using the main existing tools and interviewing a panel of experts, the authors developed a new tool called “DySMA”, taking into account interview and examination data, with ten categories comprising a total of 36 items,
- the DySMA was tested in 8 healthy subjects, 6 presymptomatic subjects and 6 treated symptomatic subjects, and proved to be feasible and useful.
Although tested on a small sample of patients, the DySMA could harmonise the assessment of some of the bulbar disorders observed in SMA.
