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亨廷顿病患者及其后代肌肉震颤的量化早期检测研究

Quantification of muscle tremor of Huntington's disease patients and their offspring in an early detection study.

作者信息

Myers R H, Falek A

出版信息

Biol Psychiatry. 1979 Oct;14(5):777-89.

PMID:159079
Abstract

Accelerometer measurements of muscle tremor yielded significant findings for both Huntington's disease (HD) patients and their genetically at risk offspring. Although affected individuals are usually characterized by gross involuntary muscle movements, alterations in minute muscle tremor were also found in our sample of ten HD patients. Irregularities in tremor patterns were intensified with increased time since onset of the disorder and in addition reflected the effects of drug therapy for those on medication. The use of accelerometer measurements of muscle tremor may therefore, prove to be useful in evaluating new medications for affected individuals. For high risk immediate family members currently there is no safe and reliable method to identify, prior to clinical onset, any among them who will develop HD. Aberrant muscle tremor patterns resembling that shown by HD patients were found in one-third of a sample of 15 genetically at risk offspring. In the event an effective method of treatment is developed, early recognition of HD gene carriers by accelerometer tremor measurement could result in control of the disorder prior to substantial neurological damage.

摘要

对亨廷顿病(HD)患者及其有遗传风险的后代进行的肌肉震颤加速度计测量得出了重要发现。尽管受影响个体通常以明显的非自主肌肉运动为特征,但在我们的10名HD患者样本中也发现了微小肌肉震颤的改变。震颤模式的不规则性随着疾病发作时间的增加而加剧,此外还反映了药物治疗对正在服药患者的影响。因此,使用肌肉震颤加速度计测量可能被证明对评估受影响个体的新药有用。对于目前处于高风险的直系亲属,在临床发病前,没有安全可靠的方法来识别他们中任何将患HD的人。在15名有遗传风险的后代样本中,三分之一的人发现了类似于HD患者所表现出的异常肌肉震颤模式。如果开发出一种有效的治疗方法,通过加速度计震颤测量早期识别HD基因携带者可能会在造成实质性神经损伤之前控制该疾病。

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