Walker Ruth H
Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1242-63. doi: 10.1212/01.CON.0000436155.46909.c3.
Chorea is a relatively common movement disorder that can be caused by a large variety of structural, autoimmune, neurodegenerative, pharmacologic, and metabolic disturbances of basal ganglia function. The diagnosis is rarely indicated by the phenotypic appearance of chorea and can be challenging, with many patients remaining undiagnosed. This review highlights salient features that may be observed or elicited in the case of a person with chorea, which may provide an indication of the diagnosis.
Recent advances in genetics have identified genes for new disorders and expanded the phenotype of recognized conditions. New therapies include tetrabenazine, a presynaptic dopamine depleter, and deep brain stimulation.
Clues to diagnosis may be found in the patient's family or medical history, on neurologic examination, or upon laboratory testing and neuroimaging. While most therapies at present are supportive, correct diagnosis is essential for appropriate genetic counseling and ultimately for future molecular therapies.
舞蹈症是一种相对常见的运动障碍,可由基底节功能的多种结构、自身免疫、神经退行性、药物和代谢紊乱引起。舞蹈症的诊断很少通过其表型表现来确定,且具有挑战性,许多患者仍未得到诊断。本综述重点介绍了舞蹈症患者可能观察到或引发的显著特征,这些特征可能为诊断提供线索。
遗传学的最新进展已确定了新疾病的基因,并扩展了已确认疾病的表型。新的治疗方法包括突触前多巴胺耗竭剂丁苯那嗪和深部脑刺激。
诊断线索可能存在于患者的家族史或病史、神经系统检查、实验室检查及神经影像学检查中。虽然目前大多数治疗是支持性的,但正确诊断对于适当的遗传咨询以及最终的未来分子治疗至关重要。