Krivošík Marek, Košutzká Zuzana, Šaling Marián, Boleková Veronika, Brauneckerová Rebeka, Gábor Martin, Valkovič Peter
2nd Department of Neurology, Faculty of Medicine, Comenius University Bratislava, 813 72 Bratislava, Slovakia.
Faculty of Psychology, Institute of Clinical Psychology, Pan-European University, 821 02 Bratislava, Slovakia.
Medicina (Kaunas). 2025 Mar 23;61(4):571. doi: 10.3390/medicina61040571.
: Spinal muscular atrophy (SMA) is a progressive, autosomal recessive, rare neuromuscular disorder caused by a genetic defect in the gene, where the gene cannot sufficiently compensate. Patients experience progressive and predominantly proximal muscular weakness and atrophy. Oculomotor disorders are currently not regarded as a typical feature of SMA. The aim of this study was to determine whether oculomotor abnormalities are present in subjects with SMA and to assess a potential relationship between the oculomotor parameters and disease duration. : An analysis of 15 patients with SMA type 2 and type 3 and 15 age-matched healthy controls was conducted. The oculomotor performance, including the analysis of smooth pursuit velocity gain and saccades parameters (latency, velocity, accuracy) in the horizontal and vertical directions, was compared between both groups. : The analysis of smooth pursuit gain in the participants revealed a marginally significant reduction between the SMA patients and the healthy controls in the horizontal direction at a frequency of 0.2 Hz ( = 0.051), but no significant differences were observed at any other frequency or direction. The vertical velocity of the saccade eye movements of the SMA patients was increased compared with the healthy subjects, which was statistically significant for the amplitude of ±10° ( = 0.030), but not for the amplitude of ±16.5° ( = 0.107). The horizontal saccade latency, saccade velocity and saccade accuracy did not differ significantly between the SMA patients and the controls. None of the oculomotor parameters were associated with disease duration. : While certain oculomotor abnormalities, such as increased vertical saccade velocity, were observed in the SMA patients, these findings do not indicate a defining role of oculomotor impairment in SMA pathology or its clinical characteristics.
脊髓性肌萎缩症（SMA）是一种进行性、常染色体隐性、罕见的神经肌肉疾病，由基因中的遗传缺陷引起，该基因无法充分发挥补偿作用。患者会出现进行性且主要为近端肌肉无力和萎缩。目前，眼球运动障碍不被视为SMA的典型特征。本研究的目的是确定SMA患者是否存在眼球运动异常，并评估眼球运动参数与疾病持续时间之间的潜在关系。：对15例2型和3型SMA患者及15名年龄匹配的健康对照者进行了分析。比较了两组之间的眼球运动表现，包括水平和垂直方向上的平稳跟踪速度增益分析以及扫视参数（潜伏期、速度、准确性）。：对参与者平稳跟踪增益的分析显示，SMA患者与健康对照者在水平方向上0.2Hz频率时存在边缘性显著降低（P = 0.051），但在任何其他频率或方向上均未观察到显著差异。与健康受试者相比，SMA患者扫视眼球运动的垂直速度增加，在±10°幅度时具有统计学意义（P = 0.030），但在±16.5°幅度时无统计学意义（P = 0.107）。SMA患者与对照组之间的水平扫视潜伏期、扫视速度和扫视准确性无显著差异。眼球运动参数均与疾病持续时间无关。：虽然在SMA患者中观察到了某些眼球运动异常，如垂直扫视速度增加，但这些发现并不表明眼球运动障碍在SMA病理或其临床特征中具有决定性作用。
