França Marcondes C, D'Abreu Anelyssa, Friedman Joseph H, Nucci Anamarli, Lopes-Cendes Iscia
Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Rua Tessália Vieira de Camargo, 126 Cidade Universitaria Zeferino Vaz, Campinas, SP, Brazil.
Arch Neurol. 2007 Dec;64(12):1767-70. doi: 10.1001/archneur.64.12.1767.
Machado-Joseph disease (MJD) is one of the most common forms of neurodegenerative ataxia characterized by remarkable phenotypic heterogeneity. Although patients frequently report pain, systematic evaluation of this clinical feature is lacking.
To compare the frequency of chronic pain among patients with genetically confirmed MJD, an age- and sex-matched healthy control group, and a disease control group of patients with amyotrophic lateral sclerosis (ALS).
We included 70 patients with MJD, 20 patients with ALS, and 70 control subjects from 2 clinical centers. All individuals underwent assessment with a standardized pain questionnaire. In addition, we used a visual analog scale to quantify pain intensity.
Thirty-three patients with MJD (47%), 3 patients with ALS (15%), and 6 controls (9%) reported chronic pain. Lower back pain preceded ataxia in 6 patients with MJD. Twenty-nine patients with MJD had daily pain, which was continuous in 23. The mean visual analog scale score was 6.1 in patients with MJD. Pain was musculoskeletal in 26 patients with MJD, dystonic in 2, neuropathic in 2, and mixed in 3. Typically, pain was lumbar (n = 17) or in the lower limbs (n = 15). We did not find significant differences regarding duration of disease, sex, or severity of ataxia among patients with MJD with and without chronic pain. Expanded (CAG)(n) tandem repeats were longer in patients with MJD who experienced chronic pain (67.3 vs 65.2; P = .04).
In our series, pain was significantly more frequent in patients with MJD than in controls. Chronic pain was a frequent and often disabling complaint among patients with MJD. The lower back was the most frequently reported location of pain in patients with MJD.
马查多-约瑟夫病（MJD）是神经退行性共济失调最常见的形式之一，其特征为显著的表型异质性。尽管患者经常报告疼痛，但缺乏对这一临床特征的系统评估。
比较基因确诊的MJD患者、年龄和性别匹配的健康对照组以及肌萎缩侧索硬化症（ALS）患者疾病对照组中慢性疼痛的发生率。
我们纳入了来自2个临床中心的70例MJD患者、20例ALS患者和70名对照者。所有个体均接受标准化疼痛问卷评估。此外，我们使用视觉模拟量表来量化疼痛强度。
33例MJD患者（47%）、3例ALS患者（15%）和6名对照者（9%）报告有慢性疼痛。6例MJD患者在共济失调之前出现下背部疼痛。29例MJD患者每天都有疼痛，其中23例疼痛持续存在。MJD患者的视觉模拟量表平均评分为6.1。26例MJD患者的疼痛为肌肉骨骼性，2例为张力障碍性，2例为神经性，3例为混合性。通常，疼痛位于腰部（n = 17）或下肢（n = 15）。我们未发现有或无慢性疼痛的MJD患者在病程、性别或共济失调严重程度方面存在显著差异。经历慢性疼痛的MJD患者的扩展（CAG）(n)串联重复序列更长（67.3对65.2；P = .04）。
在我们的研究系列中，MJD患者的疼痛明显比对照组更频繁。慢性疼痛是MJD患者常见且常导致功能障碍的主诉。下背部是MJD患者报告疼痛最频繁的部位。
