ter Bruggen J P, Tijssen C C, Brunner H G, van Oost B A, Bastiaensen L A
Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands.
Muscle Nerve. 1992 Mar;15(3):358-61. doi: 10.1002/mus.880150315.
Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD patients, and 23 age- and sex-matched healthy controls. The purpose of the study was to evaluate whether eye movement abnormalities are an early expression of the MyD gene, and to determine the value of this procedure for detection of otherwise asymptomatic gene carriers. EMR did not reveal any abnormalities in the asymptomatic group, but in the mildly affected group showed significantly (P less than 0.01) decreased maximum velocities of the saccades, compared with controls. The results indicate that EMR may aid in the detection of mildly affected MyD patients. However, true presymptomatic diagnosis with EMR has not yet proven possible.
对5名无症状的强直性肌营养不良（MyD）基因携带者、7名症状轻微的MyD患者以及23名年龄和性别匹配的健康对照者进行了眼动记录（EMR）。本研究的目的是评估眼动异常是否为MyD基因的早期表现，并确定该检查方法在检测无症状基因携带者方面的价值。在无症状组中，EMR未发现任何异常，但在症状轻微组中，与对照组相比，扫视的最大速度显著降低（P小于0.01）。结果表明，EMR可能有助于检测症状轻微的MyD患者。然而，尚未证实通过EMR进行真正的症状前诊断是可行的。
