Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy

Abstract

Real-world data have shown mild improvement of overall motor function in adult patients treated with nusinersen, the first approved therapy for 5q-spinal muscular atrophy (SMA). However, knowledge about preferably targeted muscle functions is sparse. The aim of this study was to evaluate strength of distinct muscles and body regions in adult SMA patients in the early course of nusinersen therapy. 72 muscles of 15 patients were tested on the Medical Research Council (MRC) 0–10 scale (translated into MRC %) from nusinersen start to 14 months of treatment. The whole body muscular strength improved slightly or remained stable in 80% of SMA patients with a median improvement of + 2%. However, relevant increases of muscle strength of distinct regions were identified in the proximal upper limbs and shoulder girdle (median + 8%) and in muscle groups with a preserved function pre-treatment, even in more advanced diseased SMA patients. MRC grading was additionally performed in seven patients enrolled during ongoing treatment. Here, further improvement of muscle strength until month 18–26 was seen with the highest increases in the proximal upper and lower limbs. Our findings suggest that sole evaluation of the overall muscle strength might underestimate nusinersen therapy benefits.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

“…Subsequent real-life studies, including both prospective and retrospective observational studies, have further supported the beneficial effects of nusinersen on motor function in pediatric and adult patients with SMA types 1, 2, and 3. 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 …”