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

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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 19–42 years receiving oral therapy for 2021–2023. 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.

About the authors

Ekaterina S. Novikova

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Author for correspondence.
Email: novikova.ekserg@yandex.ru
ORCID iD: 0000-0001-6004-9111
SPIN-code: 7300-0301
Scopus Author ID: 57200326998

neurologist at the Orphan diseases center, junior researcher, M.F. Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia

Russian Federation, Moscow

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2. Dynamics of scores on the RULM scale in 9 patients during therapy with risdiplam.

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Copyright (c) 2023 Novikova E.S.

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