Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy

摘要

Introduction/Aims In adult spinal muscular atrophy (SMA), the motor unit number index (MUNIX) has been shown to be an useful electrophysiological biomarker. This study evaluated the feasibility and the clinical relevance of using the MUNIX technique for patients with pediatric SMA (Ped-SMA) and correlated MUNIX results with clinical scores. Methods Fourteen patients with type II Ped-SMA (11 females; median age 11 y [interquartile range (IQR), 4.8-17 y]) and 14 controls (nine females; median age 10.75 y [IQR, 6.5-13.4 y]) were enrolled and matched by sex, age, height, weight, and body mass index. Clinical examination included manual muscle testing, dynamometry (grasp and pinch), and motor function measure (MFM). The MUNIX technique was evaluated in the abductor digiti minimi (ADM) and abductor pollicis brevis (APB) on two sides when possible. Results In the patients with Ped-SMA, the MUNIX and compound muscle action potential (CMAP) amplitudes were significantly decreased and the motor size unit index (MUSIX) was significantly increased in the ADM and APB when compared to controls. The intraclass correlation coefficient was good for the intrarater variability of the CMAP amplitude, MUNIX, and MUSIX in the ADM (0.95, 0.83, and 0.89, respectively) and the APB (0.98, 0.96, and 0.94, respectively). The total CMAP amplitude correlated with the grasp and pinch scores (P < .05), and the MUNIX measurements correlated with the MFM scores. Discussion The MUNIX technique, which accurately estimated lower motor neuron loss and the number of remaining functional motor units, was shown to be a useful electrophysiological biomarker for disease progression and a potential biomarker for treatment response.