SMA can start at all ages. It is clinically manifested by paralysis of varying age and severity, causing respiratory and orthopedic complications. Depending on the age of onset and the motor levels acquired, there are 4 types (from I to IV). Motor neuron degeneration is linked to a recessive mutation in the SMN1 gene, the phenotype being modulated by the number of copies of a paralog gene called SMN2.
In an article published in May 2020, Cure-SMA, the largest American association of patients with SMA, presents its action plan to promote therapeutic trials in this disease. This initiative, launched in 2018, aims to network American expert centers, both for their capacities to carry out clinical trials and for their ability to implement standards of care and criteria for monitoring in SMA. Training programs, especially for doctors and physiotherapists, as well as information kits were carried out on this occasion, in addition to formal on-site assessments (or on file). Cure-SMA, whose initiative is very positively experienced by those involved in the field, has also started talks with SMA-Europe and non-American reference centers, to extend and adapt its program on the European continent.
