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首页> 外文期刊>Journal of neurology >Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion.
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Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion.

机译：1型强直性肌营养不良和CTG重复进行足钉反射。

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The severity of clinical symptoms of myotonic dystrophy type 1 (DM1) has been shown to be closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. Neuro-otological examinations that include eye movement and stapedial reflex (SR) tests can contribute to the quantitative evaluation of muscular involvement in DM1. We previously found that saccadic eye movement velocity in DM1 patients was significantly lower than that in control subjects and that the saccadic velocity and size of the CTG triplet repeat in DM1 patients had a strong inverse correlation. We now report a case-control study that compared the SR wave form (latency: L, contraction time: C50, and relaxation time: D50) measured by the acoustic impedance method in 13 patients with DM1 and in 14 control subjects matched for age and sex. The correlation between the SR wave form and CTG repeat length in DM1 patients obtained by Southern blot analysis with EcoRI was also examined. We found (1) no significant difference between the pure tone audiometric threshold at 500 Hz in the DM1 patients and that in the control subjects; (2) or between the SR thresholds in the patients and controls (500 Hz stimuli); (3) C50 and D50 in DM1 patients to be significantly prolonged, whereas L was not; (4) C50 and D50 in DM1 patients to be significantly correlated with CTG repeat length, whereas L was not. Measurement of SR by the acoustic impedance method is completely non-invasive, causes no discomfort to the subject, and does not depend on the person's effort or cooperation. Our findings show that SR measurement can be used for a quantitative evaluation of muscle involvement in DM1. We believe that the prolongation of D50 in DM1 is caused by myotonia, which has to be confirmed by further clinical and pathological studies.
机译：1型强直性肌营养不良症（DM1）的临床症状的严重程度已显示与编码肌钙蛋白蛋白激酶的基因中CTG三联体重复序列的大小密切相关。包括眼球运动和骨反射（SR）测试在内的神经科检查可有助于定量评估DM1中肌肉受累情况。我们先前发现DM1患者的眼球运动速度明显低于对照组，并且DM1患者的眼球运动速度和CTG三联体重复的大小具有很强的负相关性。现在，我们报告了一项病例对照研究，该研究比较了通过声阻抗法测量的SR波形（潜伏期：L，收缩时间：C50和舒张时间：D50）在13例DM1患者和14例年龄和年龄相匹配的对照组中性别。还检查了通过EcoRI的Southern印迹分析获得的DM1患者的SR波形与CTG重复长度之间的相关性。我们发现（1）DM1患者和对照组的500 Hz的纯音测听阈之间无显着差异; （2）或在患者和对照组的SR阈值之间（500 Hz刺激）; （3）DM1患者的C50和D50显着延长，而L则没有; （4）DM1患者的C50和D50与CTG重复长度显着相关，而L与之无关。用声阻抗法测量SR完全是非侵入性的，不会给受试者带来不适，也不依赖于人的努力或合作。我们的发现表明，SR测量可用于定量评估DM1中的肌肉受累情况。我们认为，DM1中D50的延长是由肌强直引起的，这必须通过进一步的临床和病理学研究来证实。

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