P.364Experiences from a 12 month period of treatment with nusinersen on motor function in Swedish patients with spinal muscular atrophy

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene (5q 12.2-13.3) leading to atrophy of anterior horn cells in the spinal cord and brainstem. The antisense oligonucleotide nusinersen was recently approved in for treatment of SMA in the Swedish public health care system. In this study we investigate the development of motor function for patients with SMA I, II and III treated with nusinersen over a 12 months period. All patients diagnosed with SMA I, Ii and III treated with nusinersen for at least 12 months at the Department of Pediatrics, Queen Silvia Children's Hospital, Gothenburg, Sweden are included in the study. The motor function is assessed by standardized motor function scales; CHOP-INTEND, Expanded Hammersmith Functional Motor Scale for SMA (HFMSE) and Revised Upper Limb Module (RULM) and the 6-minute walk test, developed and validated for patients with SMA. Data regarding age of onset, age at start of treatment, genetic constitution and development of motor function will be presented. These results contribute to the body of knowledge regarding the development of motor function in patients with SMA treated with nusinersen.