Combination of nusinersen and rehabilitation using hybrid assistive limb for type 3 spinal muscular atrophy.

Tsuda, Yo; Ueki, Yoshino; Kawaguchi, Takatsune; Taniguchi, Yoko; Madokoro, Yuta; Kobayashi, Takafumi; Hattori, Ayako; Kashima, Shuto; Hibino, Hiroaki; Saitoh, Shinji; Matsukawa, Noriyuki

An antisense oligonucleotide drug nusinersen can improve motor function of spinal muscular atrophy (SMA) patients. The Hybrid Assistive Limb (HAL) is a wearable robot assisting the wearers' movements in real time. Gait rehabilitation using HAL is useful for SMA. However, the efficacy of combined treatment has never been reported before. We have investigated the efficacy of combining both therapies. A 21‐year‐old man, genetically diagnosed with type 3 SMA, was treated by combining nusinersen and five sessions of gait rehabilitation using HAL over 2 years. Hammersmith Functional Motor Scale‐Expanded (HFMSE) score improved by 12 points after treatment. Electrophysiological parameters of the tibial nerves improved. Muscle volume also increased by 8% at 39 months. The combined therapy resulted in a good clinical outcome. This may be due to promotion of nerve regeneration and recovery of muscle volume by a synergy of nusinersen and motor learning correctly guided by HAL.

SPINAL muscular atrophy; TREATMENT effectiveness; ROBOTIC exoskeletons; NERVOUS system regeneration; TIBIAL nerve

Neurology & Clinical Neuroscience, 2025, Vol 13, Issue 1, p83

2049-4173

Academic Journal

10.1111/ncn3.12853