Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region

Abstract

5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy. A specific therapy has changed the prognosis for such patients, prevented worsening disability, and improved the quality of life. Here are presented follow-up data for 13 patients with SMA aged 1942 years receiving oral therapy for 20212023. Changes in motor functions were assessed using a Revised Upper Limb Module (RULM) every 6 months. According to the follow-up data for risdiplam use in adult patients with SMA in the Moscow region, condition can be stabilized and motor functions can be improved even in patients with a severe neurological deficit at advanced disease stages.

Keywords

• 5q spinal muscular atrophy
• spinal muscular atrophy
• risdiplam