ICNC Abstracts, ICNC 2018

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Explore evaluation methods of treatment efficacy on spinal muscular atrophy
kotaro yuge, Masao Suda, Ryuta Ishii, Takashi Ohya, Shinichiro Nagamitsu, Motomu Yoshida, Yushiro Yamashita

Last modified: 2018-09-09

Abstract


[Background] Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance trait. Previously it was only care, but in Japan, Nusinersen was released in September 2017. SMA patients have functional impairment not only in motor function, but also in cognition, sleep, autonomic nervous system, basal metabolism etc. Our aim is to explore methods that can objectively evaluate clinical symptoms other than motor function. [Methods] A pilot study was conducted before and after treatment in SMA patients undergoing our hospital visit. We use Polysomnography (PSG), and bioelectrical impedance method (BIA). [Results] There are 8 subjects. Type I is 2 people, type II is 6 people. Age ranges from 2 to 35 years. There are no patients who have gastrostomy or tracheostomy, and 3 people are using non-invasive positive pressure. There is one patient who have severe scoliosis. In PSG, the Apnea-Hypopnea index is 0.8-31.2/ h, which shows improvement trend. The ratio of deep sleep tended to be small. In BIA, skeletal muscle mass and basal metabolism was low. [Discussion] It is difficult to evaluate treatment effects on the motor function scale in patients with limited motor function. In Japan, there are substantial numbers of many advanced SMA patients, who have significantly limited gross motor function and require permanent mechanical ventilation for survival. It is very important to explore several methods that can objectively evaluate clinical symptoms other than motor function.

Keywords


Spinal muscular atrophy; evaluation; Nusinersen

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