Chronic Pain In Machado-joseph Disease: A Frequent And Disabling Symptom

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. ©2007 American Medical Association. All rights reserved.641217671770Schöls, L., Bauer, P., Schmidt, T., Schulte, T., Riess, O., Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis (2004) Lancet Neurol, 3 (5), pp. 291-304Kawaguchi, Y., Okamoto, T., Taniwaki, M., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 (1994) Nat Genet, 8 (3), pp. 221-228Coutinho P. Doença de Machado-Joseph: Estudo Clínico, Patológico e Epidemiológico de uma Doença Neurológica de Origem Portuguesa. Porto, Portugal: Tipografia Nunes Ltda1994Løkkegaard, T., Nielsen, J.E., Hasholt, L., Machado-Joseph disease in three Scandinavian families (1998) J Neurol Sci, 156 (2), pp. 152-157Goetz CG, Tanner CM, Levy M, Wilson RS, Garron DC. Pain in Parkinson's disease. Mov Disord. 1986;1(1):45-49Tinazzi, M., Del Vesco, C., Fincati, E., Pain and motor complications in Parkinson's disease (2006) J Neurol Neurosurg Psychiatry, 77 (7), pp. 822-825Tison F, Wenning GK, Volonte MA, Poewe WR, Henry P, Quinn NP. Pain in multiple system atrophy. J Neurol. 1996;243(2):153-156Ben Smail, D., Jacq, C., Denys, P., Bussel, B., Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia (2005) Mov Disord, 20 (6), pp. 758-759Andersson, G.B., Epidemiological features of chronic low-back pain (1999) Lancet, 354 (9178), pp. 581-585Trouillas, P., Takayanagi, T., Hallett, M., Ataxia Neuropharmacology Committee of the World Federation of Neurology. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome (1997) J Neurol Sci, 145 (2), pp. 205-211Johns, M.W., A new method for measuring daytime sleepiness: The Epworth Sleepiness Scale (1991) Sleep, 14 (6), pp. 540-545Almeida, O.P., Almeida, S.A., Reliability of the Brazilian version of the ++abbreviated form of Geriatric Depression Scale (GDS) short form [in Portuguese (1999) Arq Neuropsiquiatr, p. 57. , 2B:421-426Nutt, J.G., Carter, J.H., Sensory symptoms in parkinsonism related to central dopaminergic function (1984) Lancet, 2 (8400), pp. 456-457Brefel-Courbon, C., Payoux, P., Thalamas, C., Effect of levodopa on pain threshold in Parkinson's disease: A clinical and positron emission tomography study (2005) Mov Disord, 20 (12), pp. 1557-1563Koller, W.C., Sensory symptoms in Parkinson's disease (1984) Neurology, 34 (7), pp. 957-959Chaudhuri, K.R., Healy, D.G., Schapira, A.H., National Institute for Clinical Excellence. Non-motor symptoms of Parkinson's disease: Diagnosis and management (2006) Lancet Neurol, 5 (3), pp. 235-245Karlsen, K.H., Larsen, J.P., Tandberg, E., Maeland, J.G., Influence of clinical and demographic variables on quality of life in patients with Parkinson's disease (1999) J Neurol Neurosurg Psychiatry, 66 (4), pp. 431-435Jardim, L.B., Pereira, M.L., Silveira, I., Ferro, A., Sequeiros, J., Giugliani, R., Neurologic findings in Machado-Joseph disease: Relation with disease duration, subtypes, and (CAG)n (2001) Arch Neurol, 58 (6), pp. 899-904Yamamoto, M., Kachi, T., Sobue, G., Pain-related and electrically stimulated somatosensory evoked potentials in patients with Machado-Joseph disease and multiple system atrophy (1997) Intern Med, 36 (8), pp. 550-55