Catai Ligia Maria Perrucci, Camargo Carlos Henrique Ferreira, Moro Adriana, Ribas Gustavo, Raskin Salmo, Teive Hélio Afonso Ghizoni
Botulinum Toxin Unit, Hospital Universitário, State University of Ponta Grossa, Ponta Grossa, Brazil.
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.
Open Neurol J. 2018 May 31;12:41-49. doi: 10.2174/1874205X01812010041. eCollection 2018.
Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3.
The objective of this study was to evaluate the dystonia characteristics in patients with MJD.
We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM).
Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution.
Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.
3型脊髓小脑共济失调（SCA3）或马查多-约瑟夫病（MJD）的特征是出现小脑、中枢和外周症状，包括运动障碍。SCA3患者出现的肌张力障碍可分为遗传性和神经退行性。
本研究旨在评估MJD患者的肌张力障碍特征。
我们从SCA3 HC-UFPR数据库中识别出2015年12月至2016年12月期间所有患有肌张力障碍的SCA3患者。查阅他们的病历以核实肌张力障碍的诊断，并获取人口统计学和临床数据。通过2013年运动障碍协会的分类和伯克-法恩-马斯登量表（BFM）进行标准化评估。
在呈现出一些共同特征的381例SCA3患者中，14例（3.7%）出现肌张力障碍：5例眼睑痉挛，1例颈部肌张力障碍，3例口下颌肌张力障碍，3例多灶性肌张力障碍和2例全身性肌张力障碍。关于肌张力障碍的亚型，71.4%为SCA3 I型，28.6%为SCA3 II型。疾病平均发病年龄为40±10.7岁；SCA3病程为11.86±6.13年；CAG重复长度范围为75至78，BFM评分范围为1.0至40。肌张力障碍严重程度与CAG重复长度或SCA3临床进展之间无相关性。
SCA3中的肌张力障碍很常见，并且表现出高度可变的临床特征和严重程度等级。因此，肌张力障碍是SCA3中的一个现存症状，可能先于SCA3的经典症状出现。SCA3患者中肌张力障碍的诊断尚未得到充分认识。
