儿童晚发性脊肌萎缩症的运动单位数量指数。
Motor unit number index in children with later-onset spinal muscular atrophy.
机构信息
Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Department of Neurology, Emory University School of Medicine, Atlanta, Georgia.
出版信息
Muscle Nerve. 2020 Nov;62(5):633-637. doi: 10.1002/mus.26909. Epub 2020 May 24.
BACKGROUND
Motor unit number index (MUNIX) is a validated electrophysiological biomarker in amyotrophic lateral sclerosis. MUNIX studies in spinal muscular atrophy (SMA) are limited.
METHODS
Later-onset SMA children (n = 13; three SMN2 copy number) were evaluated for Hammersmith Motor Function Scale Expanded (HMFSE) and MUNIX of right abductor pollicis brevis (APB) and abductor digiti minimi (ADM) muscles. Age-matched healthy controls (n = 8) were enrolled to obtain normative APB and ADM MUNIX values.
RESULTS
Mean APB and ADM MUNIX values in SMA subjects were significantly reduced (P < .001) compared with controls. HMFSE scores strongly correlated with ADM MUNIX (r 0.63).
CONCLUSIONS
APB and ADM muscle MUNIX studies are feasible in SMA type 2 children. ADM MUNIX correlated with disease severity on motor function testing. MUNIX studies in later-onset SMA could be a potential biomarker of motor neuron loss.
背景
运动单位数量指数（MUNIX）是肌萎缩侧索硬化症的一种经过验证的电生理学生物标志物。在脊髓性肌萎缩症（SMA）中，MUNIX 的研究有限。
方法
对迟发性 SMA 儿童（n=13；三个 SMN2 拷贝数）进行了 Hammersmith 运动功能量表扩展版（HMFSE）和右侧拇指外展肌（APB）和小指展肌（ADM）的 MUNIX 评估。招募了年龄匹配的健康对照组（n=8）以获得 APB 和 ADM MUNIX 的正常参考值。
结果
与对照组相比，SMA 受试者的 APB 和 ADM MUNIX 值明显降低（P<0.001）。HMFSE 评分与 ADM MUNIX 呈强相关（r=0.63）。
结论
APB 和 ADM 肌肉 MUNIX 研究在 2 型 SMA 儿童中是可行的。ADM MUNIX 与运动功能测试中的疾病严重程度相关。迟发性 SMA 中的 MUNIX 研究可能是运动神经元丢失的潜在生物标志物。
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