背景:肌张力障碍是表型和病因异质性疾病。已经为肌张力障碍的诊断和分类提供了许多建议和共识建议。但这些建议仅作为一般准则。当前的诊断和分类可能仍取决于临床判断,从而引起不同意见。
目的:描述运动障碍专家在孤立性局灶性宫颈肌张力障碍的诊断和分类中使用的临床特征,并根据所涉及的解剖区域制定更一致的分类方法的建议。
方法:从肌张力障碍联盟获得诊断为孤立性肌张力障碍的受试者的横断面数据,一个国际,多中心合作研究网络。对许多运动障碍专家的数据进行了评估,以确定宫颈肌张力障碍的诊断与他们记录的检查有何关系。如果诊断为局灶性宫颈肌张力障碍,则包括病例。如果他们在检查中患有颈部肌张力障碍,但给予了另一种诊断,例如节段性肌张力障碍。
结果:在2916名患有孤立性肌张力障碍的受试者中,1258例诊断为局灶性宫颈肌张力障碍。在这1258个案例中,28.3%的人在颈部区域外患有肌张力障碍。涉及脖子外的区域包括肩膀,喉部,有时是其他地区。对结果的分析指出了可能影响专家使用当前诊断指南诊断孤立性局灶性宫颈肌张力障碍的几个因素,包括对附近区域(肩,喉部,桔梗),不同地区肌张力障碍的严重程度,以及不同地区震颤的发生。
结论:尽管局灶性宫颈肌张力障碍是最常见的肌张力障碍类型,接受此诊断的受试者中,大部分患有颈部以外的肌张力障碍。这一观察表明需要更具体的指南来定义这种常见疾病。这里提出了这样的准则。
BACKGROUND: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a
consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general
guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions.
OBJECTIVE: To delineate clinical features used by movement disorder specialists in the diagnosis and classification of isolated focal cervical dystonia, and to develop recommendations for a more consistent approach to classification according to anatomical regions involved.
METHODS: Cross-sectional data for subjects diagnosed with isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data from many movement disorder specialists were evaluated to determine how diagnoses of cervical dystonia related to their recorded examinations. Cases were included if they were given a diagnosis of focal cervical dystonia. Cases were also included if they had dystonia of the neck on exam, but were given an alternative diagnosis such as segmental dystonia.
RESULTS: Among 2916 subjects with isolated dystonia, 1258 were diagnosed with focal cervical dystonia. Among these 1258 cases, 28.3% had dystonia outside of the neck region. Regions involved outside of the neck included the shoulder, larynx, and sometimes other regions. Analysis of the results pointed to several factors that may influence specialists\' use of current diagnostic
guidelines for making a diagnosis of isolated focal cervical dystonia including varied interpretations of involvement of nearby regions (shoulder, larynx, platysma), severity of dystonia across different regions, and occurrence of tremor in different regions.
CONCLUSIONS: Although focal cervical dystonia is the most common type of dystonia, a high percentage of subjects given this diagnosis had dystonia outside of the neck region. This observation points to the need for more specific
guidelines for defining this common disorder. Such
guidelines are proposed here.