Dauer W T, Burke R E, Greene P, Fahn S
Center for Parkinson's Disease and Other Movement Disorders, Neurological Institute of New York, Columbia Presbyterian Medical Center, USA.
Brain. 1998 Apr;121 ( Pt 4):547-60. doi: 10.1093/brain/121.4.547.
Idiopathic cervical dystonia (ICD) is the most common form of adult-onset focal dystonia. Previously, disagreement existed about whether ICD was a psychiatric illness, but the disorder is now viewed as a neurological illness and large clinical series have clarified the clinical features of the disease. At the time of diagnosis, extracervical dystonia is found in approximately 20% of patients, and there may be a concomitant head or hand tremor. Importantly, adult-onset ICD does not become generalized, although there may be segmental spread and pain may increase independently of the dystonia. While 10-20% of patients may experience remission, nearly all patients relapse within 5 years and are left with persistent disease. The aetiology of ICD is unknown, but there has been much progress in clarifying the genetic abnormality in families with inherited adult-onset cervical dystonia; linkage to chromosome 18p has been demonstrated in one family, and the DYT1 locus has been excluded in two other families. Painful trauma may be involved in the pathogenesis of ICD. Painful stimuli are received and processed by the basal ganglia, and the synaptic changes provoked by pain may lead to the abnormal physiology underlying dystonia. Consistent with this idea are experiments which demonstrate that altered sensory input leads to plasticity of the motor cortex, and those that explore the 'tonic vibration reflex' in patients with dystonia. Another theory suggests that a primary vestibular abnormality is responsible for ICD. Botulinum toxin is the most effective treatment for ICD. Roughly 75% of patients improve, and a response is generally seen within the first week. However, many questions remain regarding the optimal technique of administration. The development of neutralizing antibodies occurs in at least 5-10% of patients, and appears to be related both to dosage and to the interval between treatments. Side-effects are generally mild and result from the action of the toxin in the periphery. If the response to botulinum toxin is not adequate, anticholinergics, benzodiazepines, baclofen and other medications are used as adjunctive therapy. Surgical therapies are available for the treatment of ICD but are reserved for patients refractory to conservative measures.
特发性颈部肌张力障碍（ICD）是成人起病的局灶性肌张力障碍最常见的形式。以前，对于ICD是否为精神疾病存在分歧，但现在该疾病被视为一种神经疾病，大量临床系列研究已阐明了该疾病的临床特征。在诊断时，约20%的患者存在颈外肌张力障碍，并且可能伴有头部或手部震颤。重要的是，成人起病的ICD不会发展为全身性疾病，尽管可能会出现节段性扩散，且疼痛可能会独立于肌张力障碍而加重。虽然10% - 20%的患者可能会经历缓解期，但几乎所有患者在5年内都会复发，最终留下持续性疾病。ICD的病因尚不清楚，但在明确遗传性成人起病颈部肌张力障碍家族中的基因异常方面已取得很大进展；在一个家族中已证实与18号染色体短臂连锁，而在另外两个家族中已排除DYT1位点。疼痛性创伤可能参与ICD的发病机制。疼痛刺激由基底神经节接收和处理，疼痛引发的突触变化可能导致肌张力障碍潜在的异常生理状态。与此观点一致的是，实验表明感觉输入改变会导致运动皮层可塑性，以及那些探索肌张力障碍患者“紧张性振动反射”的实验。另一种理论认为原发性前庭异常是ICD的病因。肉毒杆菌毒素是治疗ICD最有效的方法。大约75%的患者病情改善，通常在第一周内可见反应。然而，关于最佳给药技术仍有许多问题。至少5% - 10%的患者会出现中和抗体，这似乎与剂量和治疗间隔均有关。副作用一般较轻，是由毒素在外周的作用引起的。如果对肉毒杆菌毒素的反应不充分，抗胆碱能药物、苯二氮䓬类药物、巴氯芬和其他药物可作为辅助治疗。手术疗法可用于治疗ICD，但仅适用于对保守治疗无效的患者。
