This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Genetic Disorders  • Ataxia  • Pain  • Alert me on articles by topic

A Frequent and Disabling Symptom

Marcondes C. França Jr, MD; Anelyssa D’Abreu, MD; Joseph H. Friedman, MD; Anamarli Nucci, MD, PhD; Iscia Lopes-Cendes, MD, PhD

Arch Neurol. 2007;64(12):1767-1770.

Background  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.

Objectives  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).

Methods  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.

Results  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).

Conclusions  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.

Author Affiliations: Departments of Neurology (Drs França, D’Abreu, and Nucci) and Medical Genetics (Drs França, D’Abreu, and Lopes-Cendes), Universidade Estadual de Campinas, Campinas, Brazil; NeuroHealth, Warwick, Rhode Island (Dr Friedman); and Department of Clinical Neurosciences, Brown University Medical School, Providence, Rhode Island (Dr Friedman).