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Published on: June 23, 2009
Chronic pain in Machado-Joseph disease: a frequent and disabling symptom
Marcondes C França1, Anelyssa D'Abreu, Joseph H Friedman
1Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Rua Tessália Vieira de Camargo, 126 Cidade Universitaria Zeferino Vaz, Campinas, SP, Brazil.
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.
Insights
Chronic pain affects nearly half of Machado-Joseph disease (MJD) patients, significantly more than controls. Pain, often disabling and located in the lower back, is a key feature of this neurodegenerative ataxia.
Area of Science:
- Neurology
- Neurodegenerative Diseases
- Pain Medicine
Background:
- Machado-Joseph disease (MJD), a common inherited ataxia, presents with varied symptoms.
- While pain is frequently reported by MJD patients, its prevalence and characteristics are not well-documented.
Purpose of the Study:
- To determine the frequency of chronic pain in MJD patients.
- To compare pain prevalence between MJD patients, healthy controls, and amyotrophic lateral sclerosis (ALS) patients.
Main Methods:
- A cohort of 70 MJD patients, 70 healthy controls, and 20 ALS patients were assessed.
- Standardized pain questionnaires and visual analog scales (VAS) were used to evaluate pain frequency and intensity.
Main Results:
- 47% of MJD patients reported chronic pain, compared to 9% of controls and 15% of ALS patients.
- Musculoskeletal pain, particularly in the lower back and lower limbs, was most common.
- Longer CAG repeat expansions in MJD patients correlated with increased pain.
Conclusions:
- Chronic pain is significantly more prevalent in MJD patients than in control groups.
- Pain is a frequent, often disabling symptom in MJD, commonly affecting the lower back.
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