Stephen Christopher D, Go Criscely L, Acuna Patrick, Sharma Nutan
Dystonia Clinic and Movement Disorders Unit Department of Neurology, Massachusetts General Hospital and Harvard Medical School Boston MA USA.
Department of Behavioral Medicine Jose Reyes Memorial Medical Center Manila Philippines.
Mov Disord Clin Pract. 2020 Mar 26;7(4):448-452. doi: 10.1002/mdc3.12929. eCollection 2020 May.
X-linked dystonia parkinsonism (XDP) is a rare disorder characterized by adult-onset, progressive dystonia that, over time, is combined with or replaced by features of parkinsonism. Gait impairment is common.
Case series of 4 patients with a unique gait disorder.
The patients displayed a characteristic gait disorder with combined dystonic and parkinsonian gait features, with phasic knee bending. Of these patients, all had parkinsonism and three-quarters had prominent dystonic features, but 1 had predominant parkinsonism and subtle dystonic features.
Although XDP is a classic form of dystonia parkinsonism, some cases can mimic idiopathic Parkinson's disease. We describe a gait disorder which appears unique to XDP, involving phasic dystonic knee bending superimposed on parkinsonian shuffling, and may help clinically differentiate one of our parkinsonian-predominant patients from more-common forms of parkinsonism. The gait is distinct from other complex dystonic disorders with gait involvement.
X连锁肌张力障碍帕金森综合征（XDP）是一种罕见疾病，其特征为成年起病的进行性肌张力障碍，随着时间推移，会合并帕金森综合征特征或被其取代。步态障碍很常见。
对4例具有独特步态障碍的患者进行病例系列研究。
这些患者表现出一种特征性步态障碍，兼具肌张力障碍性步态和帕金森氏步态特征，并伴有阶段性屈膝。在这些患者中，所有人都有帕金森综合征，四分之三有明显的肌张力障碍特征，但1例以帕金森综合征为主，肌张力障碍特征不明显。
尽管XDP是肌张力障碍帕金森综合征的典型形式，但有些病例可能类似特发性帕金森病。我们描述了一种似乎是XDP特有的步态障碍，包括叠加在帕金森氏拖步上的阶段性肌张力障碍性屈膝，这可能有助于临床上将我们的1例以帕金森综合征为主的患者与更常见的帕金森综合征形式区分开来。这种步态与其他伴有步态受累的复杂肌张力障碍性疾病不同。
