Poliklinik für Kieferorthopädie, Universität zu Köln, Medizinische Fakultät und Universitätsklinikum Köln, Deutschland.
Zentrum für Seltene Erkrankungen, Universität zu Köln, Medizinische Fakultät und Universitätsklinikum Köln, Deutschland.
Acta Myol. 2020 Jun 1;39(2):83-89. doi: 10.36185/2532-1900-010. eCollection 2020 Jun.
Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the antisense oligonucleotide nusinersen highlights the need for reliable clinical tools to evaluate motor function in patients with neuromuscular disorders. Measurement of the bulbar neuromuscular function (e.g., bite force) could be an extension to existing motor scales, sensitive to more nuanced changes, especially in symptomatic patients with severely reduced functional abilities.
Maximum bite force measurement was used to quantify changes of the masticatory function in adult monozygotic female twins with SMA type II. Using piezoelectric transducers, 550 observations were recorded for each patient during the first year of nusinersen therapy.
During the application of four loading doses of nusinersen, bite force levels steadily increased and reached a statistically significantly higher level compared to the initial state in both patients. Subsequent maintenance doses coincided with smaller or no statistically significant changes in maximum bite force.
This pilot study indicates that the measurement of maximum bite force may be a useful tool to detect changes of the bulbar function in SMA patients. As such, it may supplement existing scales to identify treatment-related changes in motor function.
脊髓性肌萎缩症是一种单基因疾病，其特征是进行性脊髓和延髓肌肉无力和萎缩。它是由α运动神经元变性引起的。最近反义寡核苷酸 nusinersen 的批准突出了需要可靠的临床工具来评估神经肌肉疾病患者的运动功能。测量延髓神经肌肉功能（例如，咬合力）可以作为现有运动量表的扩展，对更细微的变化更敏感，特别是在功能能力严重下降的有症状患者中。
使用最大咬合力测量来量化 II 型脊髓性肌萎缩症成年同卵双胞胎的咀嚼功能变化。使用压电换能器，在 nusinersen 治疗的第一年中为每位患者记录了 550 次观察。
在应用四个负荷剂量的 nusinersen 期间，咬合力水平稳步升高，与两名患者的初始状态相比，达到了统计学上显著更高的水平。随后的维持剂量与最大咬合力的较小或无统计学显著变化一致。
这项初步研究表明，最大咬合力测量可能是一种有用的工具，可以检测 SMA 患者延髓功能的变化。因此，它可以补充现有的量表，以识别与治疗相关的运动功能变化。
