Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil.

PURPOSE: Information is scarce regarding the comprehensive profile of patients with essential blepharospasm and hemifacial spasm in Brazil. The present study aimed to assess the clinical features of patients with these conditions, followed up in two reference centers in Brazil. METHODS: The study included patients with essential blepharospasm and hemifacial spasm, followed up at the Departments of Ophthalmology at Universidade Federal de São Paulo and Universidade de São Paulo. Apart from demographic and clinical features, past stressful events related to the first symptoms (triggering event), aggravating factors, sensory tricks, and other ameliorating factors for the eyelid spasms were assessed. RESULTS: A total of 102 patients were included in this study. Most patients were female (67.7%). Essential blepharospasm was the most frequent movement disorder [51/102 patients (50%)], followed by hemifacial spasm (45%) and Meige's syndrome (5%). In 63.5% of the patients, the onset of the disorder was associated with a past stressful event. Ameliorating factors were reported by 76.5% of patients; 47% of patients reported sensory tricks. In addition, 87% of the patients reported the presence of an aggravating factor for the spasms; stress (51%) was the most frequent. CONCLUSION: Our study provides information regarding the clinical features of patients treated in the two largest ophthalmology reference centers in Brazil.

What can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia?

Several demographic and environmental factors may play an important role in determining the risk of developing adult-onset isolated dystonia (AOID) and/or modifying its course. However, epidemiologic studies have provided to date only partial insight on the disease mechanisms that are actively influenced by these factors. The age-related increase in female predominance in both patients diagnosed with AOID and subjects carrying its putative mediational phenotype suggests sexual dimorphism that has been demonstrated for mechanisms related to blepharospasm and cervical dystonia. The opposite relationship that spread and spontaneous remission of AOID have with age suggests age-related decline of compensatory mechanisms that protect from the progression of AOID. Epidemiological studies focusing on environmental risk factors yielded associations only with specific forms of AOID, even for those factors that are not likely to predispose exclusively to specific focal forms (for example, only writing dystonia was found associated with head trauma, and only blepharospasm with coffee intake). Other factors show biological plausibility of their mechanistic role for specific forms, e.g., dry eye syndrome or sunlight exposure for blepharospasm, scoliosis for cervical dystonia, repetitive writing for writing dystonia. Overall, the relationship between environment and AOID remains complex and incompletely defined. Both hypothesis-driven preclinical studies and well-designed cross-sectional or prospective clinical studies are still necessary to decipher this intricate relationship.

The epidemiology of dystonia: the Hannover epidemiology study.

The prevalence of dystonia has been studied since the 1980s. Due to different methodologies and due to varying degrees of awareness, resulting figures have been extremely different. We wanted to determine the prevalence of dystonia according to its current definition, using quality-approved registries and based on its relevance for patients, their therapy and the health care system. We applied a service-based chart review design with the City of Hannover as reference area and a population of 525,731. Barrier-free comprehensive dystonia treatment in few highly specialised centres for the last 30 years should have generated maximal dystonia awareness, a minimum of unreported cases and a high degree of data homogeneity. Prevalence [n/1mio] and relative frequency is 601.1 (100%) for all forms of dystonia, 251.1 (42%) for cervical dystonia, 87.5 (15%) for blepharospasm, 55.2 (9%) for writer's cramp, 38.0 (6%) for tardive dystonia, 32.3 (5%) for musician's dystonia, 28.5 (5%) for psychogenic dystonia, 26.6 (4%) for generalised dystonia, 24.7 (4%) for spasmodic dysphonia, 20.9 (3%) for segmental dystonia, 15.2 (3%) for arm dystonia and 13.3 (2%) for oromandibular dystonia. Leg dystonia, hemidystonia and complex regional pain syndrome-associated dystonia are very rare. Compared to previous meta-analytical data, primary or isolated dystonia is 3.3 times more frequent in our study. When all forms of dystonia including psychogenic, generalised, tardive and other symptomatic dystonias are considered, our dystonia prevalence is 3.7 times higher than believed before. The real prevalence is likely to be even higher. Having based our study on treatment necessity, our data will allow better allocation of resources for comprehensive dystonia treatment.

Prevalence, indications and demographic characteristics of Botulinum neurotoxin use in a tertiary oculoplastic centre.

OBJECTIVES: Over the past 40 years, Botulinum Neurotoxin (BoNT) treatment has been used in many presentations to the hospital eye service. There is little published on its practice in an ophthalmology setting. We aim to report on the prevalence of BoNT use, indications for treatment, age, gender, socioeconomic and ethnic variations observed, and dosages used. METHODS: We performed a retrospective cross sectional observation study on the use of botulinum neurotoxin treatment in the oculoplastic department of a busy tertiary centre in the University Hospitals of Leicester, United Kingdom. RESULTS: The prevalence of BoNT in the service was 13.7 per 100,000 people. Of the 145 cases identified, the commonest indications for treatment were hemifacial spasm (62% of cases) and blepharospasm (29% of cases). Proportionally, twice as many females than males received BoNT (χ2 = 17.3, p < 0.0001). For those >30 years of age, the prevalence increased with age with those >90 years having a seven times higher prevalence than the mean. Overall, no significant differences were found in ethnicity and median index of multiple deprivation rank between those with treatment and the general population although specific district council variations were noted. CONCLUSIONS: These findings would assist commissioners in providing adequate resources to meet demand based on the demographics of their local population. Further qualitative and quantitative research is required to enhance our understanding of some of these trends.

[Blepharospasm, dry eye and extractable nuclear antigen antibodies (French translation of the article)]. / Blépharospasme, sécheresse oculaire et anticorps anti-nucléaires solubles.

PURPOSE: The goal of this study is to determine a link between benign essential blepharospasm and Sjogren's syndrome by analyzing the presence of extractable nuclear antigens in this population. METHODS: Seventy-two patients with benign essential blepharospasm (BEB) were included in this study. We eliminated patients with hemifacial spasm or blepharospasm secondary to corneal pathology. We collected the values of the Schirmer I test and the results of the anti-SSA and anti-SSB antibodies. RESULTS: Our study included 72 patients (144 eyes) whose 62 women (86.1%). Mean age was 74.3 years±10.73. Average Schirmer I test was 3.14mm±4.00mm. Five women (8% of this female population) had positive anti-SSA and SSB antibodies. Their mean age was 65.66 years±13.24 whereas the negative antibody patients had an average age of 75.42±9.27. There was no significant difference between their Schimer I test and the Schirmer I of negative antibody population. CONCLUSION: This study illustrates the possible association between the presence of Sjögren's syndrome and the occurrence of a BEB justifying the search for anti-SSA and anti SSB in blepharospasm patients.

Blepharospasm, dry eye and extractable nuclear antigen antibodies.

PURPOSE: To study whether there is an association between benign essential blepharospasm and Sjögren's syndrome by analyzing the presence of antibodies to extractable nuclear antigens in this population. METHODS: Seventy-two patients with benign essential blepharospasm (BEB) were included in this study. We excluded patients with hemifacial spasm or blepharospasm secondary to known corneal pathology. We recorded results of Schirmer I testing as well as levels of anti-SSA/Ro and anti-SSB/La antibodies. RESULTS: Our study included 72 patients (144 eyes), of which 62 (86.1%) were women. The mean age was 74.3±10.73 years. The mean Schirmer I test result was 3.14±4.00mm. Five women (8% of this female population) were found to have positive anti-SSA/Ro and anti-SSB/La antibodies. Their mean age was 65.66±13.24 years, while the mean age of the antibody-negative patients was 75.42±9.27 years. There was no statistically significant difference between the Schirmer I tests of the antibody positive and negative patients. CONCLUSION: This study demonstrates a possible association between Sjögren's syndrome and benign essential blepharospasm, justifying anti-SSA/Ro and anti-SSB/La testing in these patients.

Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins.

Blepharospasm and oromandibular dystonia are focal dystonias characterized by involuntary and often patterned, repetitive muscle contractions. There is a long history of medical and surgical therapies, with the current first-line therapy, botulinum neurotoxin (BoNT), becoming standard of care in 1989. This comprehensive review utilized MEDLINE and PubMed and provides an overview of the history of these focal dystonias, BoNT, and the use of toxin to treat them. We present the levels of clinical evidence for each toxin for both, focal dystonias and offer guidance for muscle and site selection as well as dosing.

Personality profile of the primary blepharospasm (BSP): An investigation using the Minnesota Multiphasic Personality Inventory.

OBJECTIVE: To explore whether patients with blepharospasm (BSP) have abnormal personality traits by the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire. METHOD: The personality profiles of patients with BSP and its relationship with clinical characteristics were assessed in this research. 46 patients with BSP and 33 age-and-gender matched healthy controls were assessed using the MMPI questionnaire. The scores of three validity scales and ten clinical scales were calculated and compared. Then the relationship between those scales and clinical characteristics of patients with BSP was analyzed in the BSP group. RESULTS: It was found that patients with BSP scored significantly higher than healthy controls on the D, Hy, Pt clinical scales. The peak values of profiles were Hy, D, Hs scale scores. However, there was no statistical relationship between the clinical scales of MMPI and the clinical characteristics of BSP after Bonferroni Correction. CONCLUSION: The findings indicated that MMPI could be a useful psychometric tool to characterize a specific pattern of the personality of BSP patients and BSP patients may have avoidant and somatization personality characteristics.

Long-term treatment of blepharospasm with botulinum toxin A: a service-based study over a 16-year follow-up in southern China.

OBJECTIVE: To elucidate the effect of long-term treatment with botulinum toxin A (BTX-A) for blepharospasm. Prevalence data and clinical features in southern China and influencing factors for selecting BTX-A treatment were explored. METHODS: We collected data retrospectively from 338 consecutive patients diagnosed with blepharospasm over 16 years to assess prevalence data and clinical features. Thereafter, all patients were classified into BTX-A (n = 135) or non-BTX-A (n = 203) treatment groups according to the patients' requests in order to explore the factors influencing whether BTX-A treatment was chosen. Furthermore, dynamic follow-up data were analyzed to evaluate the long-term efficacy in the BTX-A group. RESULTS: The prevalence was 23.3 per million, with an onset age of 50.3 ± 12.3 years and a female:male ratio of 2.4:1; the most common symptom was excessive blinking (91.2%). The symptom severity and psychological assessment scores were significantly decreased by treatment with BTX-A (p < 0.01), and there was no significant difference in response duration with the prolongation of BTX-A injections. Adverse events occurred 52 times (5.0%) among 1038 injections. The symptom severity and psychological assessment scores and the occurrence of eye-opening difficulty were higher, and medical expenses and the symptom tolerability rate were lower in the BTX-A group than in the non-BTX-A group (p < 0.05). CONCLUSION: The onset age was earlier than that in Western countries. However, starting BTX-A treatment early is justified, even though a higher dosage was needed to maintain reliable long-term efficacy. Additionally, symptom severity and medical expenses are the primary factors affecting whether patients select BTX-A treatment.

Dry eye syndrome in benign essential blepharospasm.

PURPOSE: To determine the significance of dry eye syndrome in benign essential blepharospasm. DESIGN: Retrospective consecutive case series. PARTICIPANTS: One hundred and forty-four patients (288 eyes) with benign essential blepharospasm. METHODS: All subjects had Schirmer I tear tests. Those scores were analysed as a function of patient age, sex, and blepharospasm severity. MAIN OUTCOME MEASURES: Individual Schirmer-test scores in both eyes of all patients. RESULTS: A total of 144 eligible subjects (mean age±SD: 68.3±11.5 years; 76% females) were evaluated. Benign essential blepharospasm was significantly associated with female sex (P=0.0044). The mean Schirmer-test value was 5.9±7.5 (median: 2.5) mm; it was <15mm for 86.8% of the patients and <10mm for 75%, with no difference observed between men and women (P=0.27). Dry-eye syndrome severity was not correlated with age at diagnosis, for men (r=-0.22, P=0.22) or women (r=-0.067, P=0.49), or benign essential blepharospasm severity (P=0.15), but was strongly associated with benign essential blepharospasm independently of age, sex or blepharospasm intensity. CONCLUSION: Dry-eye syndrome and benign essential blepharospasm are strongly linked, independently of age, sex or BEB severity, and should be considered for the diagnosis of benign essential blepharospasm. The useful symptomatic treatment of dry eye will not cure the blepharospasm or the ocular pain, and specific treatment for blepharospasm is required, i.e., quarterly injections of botulinum toxin A into the orbicularis oculi muscle.

The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia.

Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. All subjects completed the following questionnaires: Beck Depression Inventory, Beck Anxiety Inventory, Social Phobia Inventory, Apathy Scale, Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Brief Pain Scale, and the World Health Organization Quality of Life brief scale. Results: The patients presented more symptoms of depression, anxiety, and apathy than the control subjects. They also reported worse quality of sleep and more pain complaints. Patients with blepharospasm were the most symptomatic subgroup. The patients had worse quality of life, and the presence of pain and symptoms of apathy and depression were the main influences for these findings, but not the severity of motor symptoms. Discussion: Patients with dystonia, especially those with blepharospasm, showed higher prevalence of symptoms of depression, anxiety, apathy, worse quality of sleep, and pain. These symptoms had a negative impact on their quality of life.

Epidemiology of benign essential blepharospasm: A nationwide population-based retrospective study in Taiwan.

IMPORTANCE: This study provides a nationwide, population-based data on the incidence of benign essential blepharospasm in Asian adults. BACKGROUND: To describe the incidence, patient demographics, and risk factors associated with benign essential blepharospasm. DESIGN: Population-based retrospective study. PARTICIPANTS AND SAMPLES: A total of 1325 patients with benign essential blepharospasm were identified. METHODS: Patients with diagnosis of blepharopsasm between January 2000 and December 2013 were sampled using the Longitudinal Health Insurance Database 2000. Secondary blepharospasm that may be related to neurological, trauma, and ocular surface disease were excluded. MAIN OUTCOME MEASURED: Multivariate conditional logistic regression was used to estimate the odds ratios for potential risk factors of benign essential blepharospasm. RESULTS: The mean annual incidence was 0.10‰ (0.07‰ for males, and 0.12‰ for females). The peak incidence was in the 50 to 59-year-old age group (0.19‰). People living in urban regions have more risk of developing blepharospasm comparing to people living in less urban regions (p <0.01). White-collar workers also have higher chance of having blepharospasm (p<0.001). Significant difference between control group and case group in hyperlipidemia (p <0.001), sleep disorders (p <0.001), mental disorders (depression, anxiety, obsessive compulsive disorder) (p <0.001), dry eye-related diseases (dry eye, Sjögren's syndrome) (p <0.001), Parkinson's disease (p <0.004), and rosacea (p <0.021) were also identified. CONCLUSIONS AND RELEVANCE: Higher level of urbanization, white-collar work, sleep disorders, mental health diseases, dry eye-related diseases, Parkinsonism, and rosacea are possible risk factors for benign essential blepharospasm.

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation / Aspectos epidemiológicos e clínicos de uma amostra de pacientes brasileiros com distonia primária e impacto da nova classificação em sua avaliação clínica

ABSTRACT Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.

RESUMO A distonia é um distúrbio de movimento relativamente comum e alguns de seus aspectos epidemiológicos e clínicos ainda não foram bem caracterizados em pacientes brasileiros. Além disso, uma nova classificação clínica para o transtorno foi proposta e seu impacto na prática clínica não é claro. Nosso objetivo é descrever as características clínicas e demográficas de uma série brasileira de pacientes com distonia primária, estimar sua prevalência local e explorar o impacto do uso de uma nova classificação para distonia. Foram identificados 289 pacientes com distonia primária (PDYS) durante um período de 12 meses, dos quais 235 foram submetidos a uma avaliação detalhada. Os pacientes com PDYS corresponderam a um sexto de todos os pacientes avaliados no serviço em que o estudo foi realizado, com uma prevalência local estimada de 19,8/100.000 habitantes. As características clínicas e demográficas dos pacientes foram semelhantes àquelas descritas em outros locais, com o blefaroespasmo como distonia focal mais comum e a maioria dos pacientes apresentando truques sensoriais que julgaram úteis no dia-a-dia. A aplicação da nova classificação foi fácil e simples, e a abordagem sistemática permitiu uma melhor caracterização clínica de nossos pacientes. Reconhecemos duas síndromes distônicas que não foram descritas no artigo original que propôs a classificação e suspeitamos que a distinção arbitrária entre distonia generalizada e multifocal parece não ser útil para pacientes com PDYS. Em conclusão, a prevalência e as características clínicas de nossos pacientes não foram distintas de outras amostras e a nova classificação mostrou-se prática e útil para caracterizar pacientes com distonia.

Clinical Features of Benign Essential Blepharospasm in Korean Patients.

PURPOSE: To analyze the clinical features of benign essential blepharospasm in Korean patients. METHODS: Patients diagnosed with benign essential blepharospasm in Kim's Eye Hospital from November 2014 to December 2016 were evaluated using a clinical examination and questionnaire. The questionnaire reviewed personal medical history, demographic factors, risk factors for blepharospasm development, and relieving and aggravating factors. RESULTS: Of the 101 patients enrolled, 78 (77.2%) were women. The mean age was 64.9 years old. Hypertension was the most common medical disorder (42.6%), followed by diabetes mellitus. The majority of the patients were non-smokers (83.2%) and drank less than a cup of a caffeinated beverage a day (30.7%). Fifty-seven percent of patients reported no stressful events immediately prior to symptom development. Fatigue and stress were aggravating factors in more than 55% of patients; rest was the most common relieving factor (35.6%). CONCLUSIONS: Here, we report the clinical features of benign essential blepharospasm in Korean patients for the first time. The results were consistent with previous reports showing that the majority of benign essential blepharospasm patients are women and non-smokers. In contrast to previous reports though, fatigue and stress were aggravating factors, and the most common relieving factor was rest. No stressful events had immediately preceded the development of blepharospasm in 57.4% of patients. This report may aid in treating and counseling patients with benign essential blepharospasm.

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation.

Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.

Blepharospasm 40 years later.

Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances. The various motor and nonmotor symptoms are not present in all patients, suggesting that blepharospasm is phenomenologically a heterogeneous condition. This emphasizes the need for tools for severity assessment that take into account both motor and nonmotor manifestations. The cause of blepharospasm remains elusive, but several lines of evidence indicate that blepharospasm is a multifactorial condition in which one, or several, as yet unknown genes together with epigenetic and environmental factors combine to reach the threshold of the disease. Although blepharospasm was originally believed to be solely a basal ganglia disorder, neurophysiological and neuroimaging evidence point to anatomical and functional involvement of several brain regions. The contribution of multiple areas has led to the hypothesis that blepharospasm should be considered as a network disorder, and this might reflect the varying occurrence of motor and nonmotor manifestations in blepharospasm patients. Despite advances in the aetiology and pathophysiology, treatment remains symptomatic. © 2017 International Parkinson and Movement Disorder Society.

Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm.

BACKGROUND: The nature and frequency of nonmotor symptoms in primary adult-onset cervical dystonia (CD) and blepharospasm (BSP) patients in Chinese populations remain unknown. METHODS: Hamilton's Depression Scale (HAMD), Hamilton's Anxiety Scale (HAMA), Addenbrooke's Cognitive Examination Revised (ACE-R), Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale were used to evaluate NMS in 120 patients with primary focal adult-onset dystonia (60 with BSP and 60 with CD) and 60 age-, sex-, and education level- matched healthy controls (HCs). Motor symptoms of BSP and CD patients were evaluated by Jankovic rating scale and Toronto Western Spasmodic Torticollis Rating Scale-severity scale separately. RESULTS: Twenty patients had depression, and 29 patients had anxiety. The mean HAMD and HAMA scores were significantly higher in patient groups. Thirty-six patients had cognitive decline based on the cut-off score of 75. The total score and scores of each domain of ACE-R were significantly lower in patient groups than that in HCs. Quality of sleep was impaired in patient groups, and patients with CD had worse quality of sleep than patients with BSP. Thirty-three BSP patients and 43 CD patients suffered from sleep disorder separately. The frequency of excessive daytime sleepiness did not differ between patients and HCs. No significant correlation was found between NMS and motor severity in the two forms of dystonia. CONCLUSIONS: Current study suggests that NMS are prevalent in Chinese CD and BSP patients, and the motor severity of dystonia did not contribute to the severity of nonmotor symptoms. Assessment of nonmotor symptoms should be considered in clinical management of focal dystonia.

Sensitivity of Diagnostic Tests for Dry Eye in Patients with Blepharospasm.

The aim of the study was to evaluate diagnostic tests for keratoconjunctivitis sicca (Schirmer test, tear break-up time (TBUT) test, and corneal staining with fluorescein and lissamine green dye) in patients with blepharospasm. This prospective study included 60 female patients older than 40 with blepharospasm, divided into two groups according to clinical symptoms. For fluorescein test, the surface under the ROC curve was 1.0 with standard error (SE) 0 and 95% confidence interval (95% CI) 0.940-1.0; for Schirmer test, the surface under the ROC curve was 0.817 with SE 0.0555 and 95% CI 0.696-0.905; for lissamine green test, the surface under the ROC curve was 0.813 with SE 0.056 and 95% CI 0.691-0.902; and for TBUT test, the surface under the ROC curve was 0.772 with SE 0.061 and 95% CI 0.645-0.870. According to the results of ROC curve, which determines the sensitivity and specificity of normal values, comparison of diagnostic tests for keratoconjunctivitis sicca used in this study showed that fluorescein test had the best sensitivity and specificity. Schirmer test should be avoided in patients with blepharospasm because its results are influenced by frequent blinking and are not appropriate for study interpretation. Despite the pathologic values of TBUT test (numerically), this test is still acceptable for patients with blepharospasm because its interval takes more time than the interval between two blinks.

Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland.

BACKGROUND: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources. Diagnosis was based on assessment by a neurologist with an expertise in movement disorders. When consent was obtained, a number of clinical features including family history were assessed. RESULTS: On the prevalence date there were 592 individuals in Ireland with adult onset idiopathic isolated focal dystonia, a point prevalence of 17.8 per 100 000 (95% confidence interval 16.4-19.2). Phenotype numbers were cervical dystonia 410 (69.2%), blepharospasm 102 (17.2%), focal hand dystonia 39 (6.6%), spasmodic dysphonia 18 (3.0%), musician's dystonia 17 (2.9%) and oromandibular dystonia six (1.0%). Sixty-two (16.5%) of 375 consenting index cases had a relative with clinically confirmed adult onset idiopathic isolated focal dystonia (18 multiplex and 24 duplex families). Marked variations in the proportions of patients with tremor, segmental spread, sensory tricks, pain and psychiatric symptoms by phenotype were documented. CONCLUSIONS: The prevalence of adult onset idiopathic isolated focal dystonia in Ireland is higher than that recorded in many similar service-based epidemiological studies but is still likely to be an underestimate. The low proportion of individuals with blepharospasm may reflect reduced environmental exposure to sunlight in Ireland. This study will serve as a resource for international comparative studies of environmental and genetic factors in the pathogenesis of the disorder.