Defazio Giovanni, Gigante Angelo F
Department of Basic Medical Sciences, Neurosciences and Sense Organs, "Aldo Moro" University of Bari, Bari, Italy.
Tremor Other Hyperkinet Mov (N Y). 2013 May 3;3. doi: 10.7916/D8QN65GQ. Print 2013.
Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease.
We reviewed controlled studies on possible environmental risk factors for primary early- and late-onset dystonia.
Environmental factors associated with primary early-onset dystonia are poorly understood. Early childhood illnesses have been reported to be more frequent in patients with DYT1 dystonia than in subjects carrying the DYT1 mutation that did not manifest dystonia, thus raising the possibility that such exposures precipitate dystonia among DYT1 carriers. Conversely, several environmental factors have been associated with primary adult-onset focal dystonias compared to control subjects. Namely, eye diseases, sore throat, idiopathic scoliosis, and repetitive upper limb motor action seem to be associated with blepharospasm (BSP), laryngeal dystonia (LD), cervical dystonia (CD), and upper limb dystonia, respectively. In addition, an inverse association between coffee drinking and BSP has been observed in both case-unrelated control and family-based case-control studies. Additional evidence supporting a causal link with different forms of primary late-onset dystonia is only available for diseases of the anterior segment of the eye, writing activity, and coffee intake.
There is reasonable epidemiological evidence that some environmental factors are risk-modifying factors for specific forms of primary adult-onset focal dystonia.
肌张力障碍是一种运动障碍，其特征为非自主性肌肉收缩，可导致扭转运动和异常姿势。原发性肌张力障碍是最常见的形式，被认为是一种多因素疾病，其中一个或多个基因与环境因素共同作用导致发病。
我们回顾了关于原发性早发型和晚发型肌张力障碍可能的环境危险因素的对照研究。
与原发性早发型肌张力障碍相关的环境因素尚不清楚。据报道，DYT1肌张力障碍患者的儿童早期疾病比未表现出肌张力障碍的DYT1突变携带者更为常见，因此增加了此类暴露在DYT1携带者中引发肌张力障碍的可能性。相反，与对照受试者相比，一些环境因素与原发性成人起病的局灶性肌张力障碍有关。具体而言，眼病、喉咙痛、特发性脊柱侧凸和重复性上肢运动似乎分别与眼睑痉挛（BSP）、喉肌张力障碍（LD）、颈部肌张力障碍（CD）和上肢肌张力障碍有关。此外，在病例无关对照研究和基于家系的病例对照研究中均观察到喝咖啡与BSP之间存在负相关。仅在前部眼病、书写活动和咖啡摄入方面有支持与不同形式的原发性晚发型肌张力障碍存在因果关系的额外证据。
有合理的流行病学证据表明，一些环境因素是特定形式的原发性成人起病局灶性肌张力障碍的风险调节因素。
