The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II :
- 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals.
- The participants were between 30 months and 20 years old when the RULM was first administered.
- These patients, These patients, who were selected because they had not been treated, reflected the natural history of the development of RULM, with a median follow-up of 3.98 years.
- After a positive initial phase, RULM began to decline from the age of 4.4 years.
- Compared with a group of treated patients, the authors confirm the benefit of innovative therapies.
