Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain

Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia

We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure

Speech-induced blepharospasm

Primary blepharospasm is an adult-onset dystonia typically present at rest and exacerbated by bright light, stress and voluntary movements of eyes and eyelids. Inconsistency or inducibility by activities involving muscles other than orbicularis oculi muscles are considered incongruous with typical primary blepharospasm, heralding the suspicion of psychogenicity. We report the clinical vignette of two patients manifesting an unusual presentation of primary blepharospasm, specifically triggered by voiced speech and associated with an otherwise 'typical' presentation of primary adult-onset dystonia in the lower face, larynx or upper limb. Speech-induced primary blepharospasm seems a rare occurrence, representing 1.3% of our clinic-based series of 149 patients with primary adult-onset primary blepharospasm. In these atypical patients, the feature of speech inducibility suggests that the abnormal surrounding inhibition between cortical subregions representing laryngeal and orbicularis oculi muscles might underlie dystonic overflow to the orbicularis oculi muscles following the voiced speech

Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia

We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure

Frequency of apraxia of eyelid opening in the general population and in patients with extrapyramidal disorders

We ascertained the prevalence of apraxia of eyelid opening (AEO) in a community located in Puglia, a region of southern Italy. The crude prevalence rate was 59 per million (95% confidence interval, 24–173). AEO coexisted with adult onset blepharospasm in 75% of cases, with atypical parkinsonism in 25% of cases. Among the overall patient population seen at our movement disorders clinic from 1987 to 1997, AEO was isolated in 10 otherwise healthy individuals, associated with adult-onset dystonia in 13 cases, and associated with a parkinsonian syndrome in 9 cases. The frequency of AEO was 10.8% in the dystonia group, and 2.1% in the overall parkinsonian group (Parkinson's disease, 0.7%; progressive supranuclear palsy, 33.3%). In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared following levodopa discontinuation. AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related

Frequency of apraxia of eyelid opening in the general population and in patients with extrapyramidal disorders

We ascertained the prevalence of apraxia of eyelid opening (AEO) in a community located in Puglia, a region of southern Italy. The crude prevalence rate was 59 per million (95% confidence interval, 24–173). AEO coexisted with adult onset blepharospasm in 75% of cases, with atypical parkinsonism in 25% of cases. Among the overall patient population seen at our movement disorders clinic from 1987 to 1997, AEO was isolated in 10 otherwise healthy individuals, associated with adult-onset dystonia in 13 cases, and associated with a parkinsonian syndrome in 9 cases. The frequency of AEO was 10.8% in the dystonia group, and 2.1% in the overall parkinsonian group (Parkinson's disease, 0.7%; progressive supranuclear palsy, 33.3%). In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared following levodopa discontinuation. AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related

The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia

The geste antagoniste (GA), a relatively common feature of adult-onset primary dystonia, has been systematically evaluated only in cervical dystonia, but it is still unclear whether its frequency and phenomenology differ among the various forms of focal dystonia. We analysed the frequency, phenomenology, effectiveness, and relationship of the GA with demographic/clinical features of dystonia in a representative clinical series of patients with the two most common forms of adult-onset primary dystonia, blepharospasm (BSP) and cervical dystonia (CD). Clinical data were gathered using a standardized questionnaire, which showed substantial testretest reliability (κ = 0.79, P < 0.00001). The frequency of GA was similar among patients with BSP (42/59, 71.2%) and patients with CD (27/32, 84.4%), and in both groups GA showed similar effectiveness in reducing dystonia. The repertoire of GA was heterogenous in both BSP and CD patients, in whom seven BSP-related and five CD-related types of GA were recorded, and a "forcible" type of GA was present in 69% of BSP patients and in 48.1% of CD patients. In our whole patient population, age at dystonia onset was significantly lower among patients reporting a GA compared to those without GA (P = 0.01). GA features shared by BSP and CD predominate over differences, suggesting common mechanisms underlying this phenomenon in the two forms of primary adult-onset dystonia