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Background: Previous family studies provided evidence that blepharospasm (BSP) can aggregate in families but did not give accurate and reliable information on the characteristics and degree of familial clustering. Aim: To evaluate the proportion of familial and non-familial BSP cases, the clinical expression of dystonia within families, the inheritance pattern, and the extent of penetrance. Methods: The study was based on the examination of the first degree relatives of 56 probands with primary BSP. Results: The 56 families produced a potential population of 436 first degree relatives of whom 296 were alive and 233 were examined. The proportion of index patients with at least one first degree relative affected by BSP, or adult onset dystonia other than BSP, was 27%. There was a remarkable degree of phenotypic variability of dystonia within families. Similar segregation ratios were calculated for probands' siblings and children. Under the assumption of autosomal dominant transmission of adult onset dystonia, penetrance was about 20%. Conclusions: The findings of this family study are relevant for accurately counselling the families of patients with BSP and may help identify the most appropriate study design to explore genetic susceptibility in BSP. [ABSTRACT FROM AUTHOR]

Objective: To investigate the association between primary hemifacial spasm and arterial hypertension.Subjects: 114 patients with primary hemifacial spasm and 228 neurological controls, matched for age, sex, and referral centre, were recruited during an 18 month period from consecutive outpatients attending two neurological institutions.Design: The association between exposure variables and case/control status was examined in conditional logistic regression models, adjusting simultaneously for disease duration and education level.Results: Hypertension was more common among the patients with primary hemifacial spasm than among the controls. The association was independent of age, disease duration, years of schooling, and other diseases (adjusted odds ratio (OR) 2.76 (95% confidence interval (CI), 1.43 to 5.33); p = 0.002). Hypertension was associated with hemifacial spasm in both the left sided group (adjusted OR, 2.76 (1.18 to 6.44); p = 0.02) and the right sided group (adjusted OR, 3.02 (1.13 to 8.1); p = 0.03). The association of hypertension with hemifacial spasm was apparently greater in the age group < 60 years (adjusted OR, 4.2 (1.4 to 12); p = 0.008) than in the age group >/= 60 years (adjusted OR, 2.5 (CI 1.3 to 4.6); p = 0.005), but the difference in the OR estimates between the two age groups was not significant. Among hypertensive patients, mean age at the diagnosis of hypertension was significantly lower than mean age at the onset of hemifacial spasm in the age group >/= 60 years, but not significantly different in the age group < 60 years.Conclusions: The findings support the hypothesised association of primary hemifacial spasm with hypertension and raise the possibility that a different mechanism underlies the association in different age groups. [ABSTRACT FROM AUTHOR]

Objective: To study the reliability of the diagnosis of blepharospasm, oromandibular dystonia, cervical dystonia, and writer's cramp among neurologists.Methods: 12 patients with adult onset focal segmental dystonia were videotaped in a standardised way. The tape was sent to six neurologists who are involved in clinical practice without a specific interest in movement disorders (general neurologists), and to four neurologists expert in movement disorders. The observers had to recognise whether the patients were affected by dystonia and to distinguish among blepharospasm, oromandibular dystonia, cervical dystonia, and writer's cramp. Interobserver reliability was assessed by kappa statistics, and the degree of agreement was classified according to the Landis classification.Results: The 10 neurologists reached slight to moderate agreement on the diagnosis of these four disorders. When the observers were subdivided according with their professional experience in the field, a moderate to perfect agreement on the diagnosis was achieved by specialists in movement disorders, and a fair to moderate agreement by the general neurologists.Conclusions: Neurologists may have different ability to recognise adult onset focal dystonia, depending on their experience and on the type of dystonia. [ABSTRACT FROM AUTHOR]

The relation between age at dystonia onset and sex was investigated in 264 patients with cranial-cervical dystonia and 56 patients with upper limb dystonia. In cranial-cervical dystonia, women had a significantly greater age at the onset of dystonia than men. The association was independent of duration of disease and distance of referral, but was no longer detectable after adjustment for educational level. In upper limb dystonia, men and women did not differ for age at dystonia onset, duration of disease, education level, or distance of referral. A significant inverse association between age at the onset of dystonia and education was observed in both cranial-cervical dystonia and upper limb dystonia series. [ABSTRACT FROM AUTHOR]