McKeon Andrew, Matsumoto Joseph Y, Bower James H, Ahlskog J Eric
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Parkinsonism Relat Disord. 2008 Dec;14(8):613-9. doi: 10.1016/j.parkreldis.2008.01.012. Epub 2008 Mar 7.
Uncommonly, adult-onset dystonia is confined to one lower extremity. We sought to characterize the clinical spectrum associated with the presenting phenotype of lower limb dystonia including foot torsion.
Retrospective computer search of the Mayo Clinic Medical Records Linkage System (1996-2006). Inclusion criteria were (1) a principal, initial diagnosis of monomelic lower extremity dystonia with foot torsion; (2) no neurologic findings outside of the affected limb; (3) age-onset>18 years. Prospective data were sought from apparent idiopathic cases.
We identified 36 patients (31 females) presenting with monomelic lower limb dystonia including foot torsion. Onset was usually subacute or insidious (32 patients); mean symptom duration was 28.8 months (range, 1-96), age-onset 47.5 years (range, 21-77). After a mean follow-up of 3.1 years, causes were identified in over half, including 5 with parkinsonism. Other treatable etiologies included psychogenic dystonia (3 patients) and stiff-limb syndrome (2 patients). Post-traumatic dystonia was diagnosed in 10 patients and consistently manifested as fixed, painful foot torsion, in contrast to the action-induced dystonia in 5 parkinsonism cases, and 10 of 14 patients with primary lower limb dystonia. Imaging identified the cause in only 1 patient (ischemic stroke) and was negative in the single patient with pyramidal signs.
Adults presenting with monomelic lower limb dystonia with foot torsion often have an identifiable cause, sometimes treatable, including Parkinson's disease (diagnosed with levodopa trial) or immune-mediated stiff-limb syndrome. Post-traumatic dystonia was the single most frequent cause and proved difficult to treat. Unlike certain other series of such patients, psychogenic dystonia was an uncommon clinical diagnosis.
成人起病的肌张力障碍局限于一侧下肢的情况并不常见。我们试图描述与下肢肌张力障碍（包括足部扭转）的表现型相关的临床谱。
对梅奥诊所医疗记录链接系统进行回顾性计算机检索（1996 - 2006年）。纳入标准为：（1）以单肢下肢肌张力障碍伴足部扭转为主的初始诊断；（2）患肢以外无神经系统发现；（3）发病年龄>18岁。从明显的特发性病例中获取前瞻性数据。
我们确定了36例表现为单肢下肢肌张力障碍伴足部扭转的患者（31例女性）。起病通常为亚急性或隐匿性（32例患者）；平均症状持续时间为28.8个月（范围1 - 96个月），发病年龄47.5岁（范围21 - 77岁）。平均随访3.1年后，超过半数患者病因得以明确，其中5例患有帕金森综合征。其他可治疗的病因包括精神性肌张力障碍（3例患者）和僵肢综合征（2例患者）。10例患者被诊断为创伤后肌张力障碍，且均表现为固定性、疼痛性足部扭转，这与5例帕金森综合征病例以及14例原发性下肢肌张力障碍患者中的10例的动作诱发性肌张力障碍形成对比。影像学检查仅在1例患者中明确了病因（缺血性中风），而在有锥体束征的唯一1例患者中检查结果为阴性。
表现为单肢下肢肌张力障碍伴足部扭转的成人患者通常有可明确的病因，有时是可治疗的，包括帕金森病（通过左旋多巴试验诊断）或免疫介导的僵肢综合征。创伤后肌张力障碍是最常见的单一病因，且治疗困难。与其他此类患者系列不同的是，精神性肌张力障碍是一种不常见的临床诊断。
