Lenka Abhishek, Louis Elan D
Department of Neurology, MedStar Georgetown University Hospital, Washington, DC, United States.
Department of Neurology, University of Texas Southwestern, Dallas, TX, United States.
Front Neurol. 2020 Oct 15;11:522687. doi: 10.3389/fneur.2020.522687. eCollection 2020.
Essential tremor (ET) is among the most prevalent neurological diseases. Appreciation in recent years of a richer tremor phenomenology, additional motor and non-motor features, variability in the natural course of tremor, associations with a host of other neurological conditions, and etiological and pathophysiological heterogeneity have resulted in general awareness of the clinical richness of ET. Along with this evolving view of ET have surfaced several conundrums regarding nomenclature. One of these is whether ET should be labeled a "syndrome" or "disease." Here, we revisit the classical definitions of "syndrome" and "disease" and discuss ET in this context. Considering the characteristics of "disease" and "syndrome" and evaluating the characteristics of ET, it seems to fit more into the "disease" construct. There are several reasons: There is considerable knowledge of the underlying etiologies and pathophysiology of ET, in numerous studies ET has been linked with other neurological conditions, the condition is progressive and deteriorative, and therapeutic approaches are grounded in an understanding of disease mechanisms and its associated neuroanatomy. Moreover, the etiological-pathological-clinical heterogeneity suggests that ET should be regarded as a "family of diseases" more appropriately termed "the essential tremors." This nomenclatural issue is not a mere matter of words; public health implications are numerous. A condition with the label "syndrome" may not be recognized as a serious problem, may be plagued by diminished public awareness, and may not garner funds for research that a condition with the label "disease" or "diseases" would. ET should be regarded as a family of diseases.
特发性震颤（ET）是最常见的神经系统疾病之一。近年来，人们对震颤现象学更加丰富、额外的运动和非运动特征、震颤自然病程的变异性、与许多其他神经系统疾病的关联以及病因和病理生理异质性有了更多认识，这使人们普遍认识到ET临床特征的丰富性。随着对ET的这种不断演变的认识，出现了几个关于命名的难题。其中之一是ET应被标记为“综合征”还是“疾病”。在此，我们重新审视“综合征”和“疾病”的经典定义，并在此背景下讨论ET。考虑到“疾病”和“综合征”的特征并评估ET的特征，它似乎更符合“疾病”的概念。有几个原因：对ET的潜在病因和病理生理学有相当多的了解，在众多研究中ET已与其他神经系统疾病相关联，该疾病是进行性和恶化性的，并且治疗方法基于对疾病机制及其相关神经解剖学的理解。此外，病因 - 病理 - 临床异质性表明ET应被更恰当地视为“一系列疾病”，称为“特发性震颤”。这个命名问题不仅仅是文字问题；对公共卫生有诸多影响。标记为“综合征”的疾病可能不被视为严重问题，可能因公众意识降低而受到困扰，并且可能无法获得标记为“疾病”的疾病所能获得的研究资金。ET应被视为一系列疾病。
