Kalita Jayantee, Ranjan Abhay, Misra Usha K
Department of Neurology Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow India.
Mov Disord Clin Pract. 2015 May 9;2(3):253-259. doi: 10.1002/mdc3.12171. eCollection 2015 Sep.
Movement disorder is common in Wilson's disease (WD), but there is no report on oromandibular dystonia (OMD). We report on frequency, severity, and MRI correlation of OMD in Wilson's disease with neurological manifestations (WDNM) and its response to treatment.
Consecutive WDNM patients were included and their clinical, hematological, serum chemistry, and MRI findings were noted. Neurological severity of WD and OMD were assessed. Burke-Fahn-Marsden (BFM) score for dystonia was noted. Patients were treated with penicillamine, zinc, and multiple antidystonic drugs. Clinical improvement at 3 and 6 months was noted.
Overall, 61 of 67 (91%) WDNM patients had OMD, whose median age was 13.5 years. Median severity of OMD was 2.5 (range, 1-4). Thirteen patients were anarthric and 12 unable to eat. Severity of OMD correlated with drooling ( = 0.29; = 0.02), BFM score ( = 0.63; < 0.001), pancytopenia ( = -0.26; = 0.04), and serum ceruloplasmin ( = 0.33; = 0.01), but not with location and number of MRI lesions. Compared to baseline, severity of OMD improved at 6 months ( < 0.001), but not at 3 months. None became asymptomatic. Improvement in OMD paralleled with improvement in severity grade of WDNM ( = 0.26; = 0.04) and with BFM score ( = 0.31; = 0.02).
OMD was a common manifestation of WDNM occurring in 91% patients, and OMD improved partially over the study period.
运动障碍在肝豆状核变性（WD）中很常见，但关于口下颌肌张力障碍（OMD）尚无相关报道。我们报告了伴有神经症状的肝豆状核变性（WDNM）患者中OMD的发生率、严重程度及其与MRI的相关性，以及其对治疗的反应。
纳入连续的WDNM患者，记录其临床、血液学、血清化学及MRI检查结果。评估WD和OMD的神经严重程度。记录肌张力障碍的伯克-法恩-马斯登（BFM）评分。患者接受青霉胺、锌及多种抗肌张力障碍药物治疗。记录3个月和6个月时的临床改善情况。
总体而言，67例WDNM患者中有61例（91%）出现OMD，其中位年龄为13.5岁。OMD的中位严重程度为2.5（范围1-4）。13例患者无法言语，12例患者无法进食。OMD的严重程度与流涎（r = 0.29；P = 0.02）、BFM评分（r = 0.63；P < 0.001）、全血细胞减少（r = -0.26；P = 0.04）及血清铜蓝蛋白（r = 0.33；P = 0.01）相关，但与MRI病变的部位和数量无关。与基线相比，OMD的严重程度在6个月时有所改善（P < 0.001），但在3个月时未改善。无一例患者症状消失。OMD的改善与WDNM严重程度分级的改善（r = 0.26；P = 0.04）及BFM评分的改善（r = 0.31；P = 0.02）平行。
OMD是WDNM的常见表现，91%的患者出现该症状，且在研究期间OMD有部分改善。
