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Essential blepharospasm is a focal distonia characterized by involuntary, spasmodic, bilateral contractions of eyelid protractors. This is a rare disease, which diagnosis is frequently late and symptoms may progress until functional blindness. In this article, we perform a review and describe the most important features of the disease, including historical aspects, epidemiology, etiology, clinical findings, differential diagnosis and treatment.

Blepharospasm, oromandibular, lingual, laryngeal and cervical dystonia are common forms of adult-onset dystonia. Each condition may appear in isolation or manifest along with other forms of craniocervical dystonia. Although the various craniocervical dystonias typically present with involuntary muscle spasms causing abnormal postures, they differ for some clinical features. Neurophysiologic and neuroimaging studies have shown a number of motor and sensory abnormalities at cortical and subcortical levels, probably reflecting a dysfunction in the basal ganglia-thalamo-cortical circuits. The best treatment for craniocervical dystonia is botulinum toxin injected into the overactive muscles.

Essential blepharospasm is defined as the involuntary spasmodic bilateral closing of the eyelids. The symptoms are typically triggered by stress, fatigue, intense light, or individual factors. The disease is usually slowly progressive. Essential blepharospasm is predominant in females and often appears in people older than 50 years old. At advanced stages patients develop functional blindness as well as social withdrawal. There are several treatment modalities: systemic and ocular medications, surgical procedures, and botulinum toxin (BTX). A great variety of drugs have been recommended for treating essential blepharospasm with poor results. Surgical procedures should be limited to the rare patients that do not respond to botulinum toxin treatment. BTX administration has been an effective treatment and should be considered the first choice for essential blepharospasm. The application technique, efficacy and possible complications are discussed in this paper.

Background: Sleep disturbances are common in patients with movement disorders. Evaluating quality of sleep is of primary importance because of the effect that nocturnal and daytime sleep abnormalities exert on general health status. However, quality of sleep has never been addressed in detail in patients with dystonia. The aim of this case-control study was to analyse quality of sleep in patients with the two most common forms of primary focal dystonia, blepharospasm (BSP) and cervical dystonia (CD)., Methods: We evaluated quality of sleep (Pittsburgh Sleep Quality Index, PSQI) and excessive daytime sleepiness (Epworth Sleepiness Scale, ESS) in 98 patients with focal adult-onset dystonia (52 with BSP; 46 with CD) and in a group of 56 age-and gender-matched healthy subjects. The Beck Depression Inventory (BDI) was used for the evaluation of depressive symptomatology., Results: Quality of sleep was impaired (significantly higher PSQI scores) in both groups of patients. However, differences in PSQI scores between patients with CD and control subjects were partly confounded by BDI scores, whereas differences in PSQI scores between patients with BSP and control subjects were not influenced by BDI. Excessive daytime sleepiness was not significantly more frequent than in control subjects in either patients with BSP or patients with CD., Conclusions: This study suggests that the assessment and treatment of insomnia-related complaints should be considered in global management plans of patients with focal dystonia, particularly in those affected by BSP.

Background: Traditionally, benign essential blepharospasm (BEB) is considered a disorder caused by basal ganglia dysfunction. Electrophysiologic and brain imaging studies suggest pathologic changes in excitability in the primary motor cortex (MC), anterior cingulate (AC), and secondary motor areas, such as premotor (PMC) and supplementary motor cortices (SMA)., Methods: In this pilot study of 7 patients with BEB, we experimentally reduced cortical excitability of 4 areas: MC (first dorsal interosseus area), PMC, SMA, and AC, each with 3 noninvasive techniques: low-frequency repetitive transcranial magnetic stimulation (lfrTMS), continuous theta burst stimulation (cTBS), and cathodal transcranial direct current stimulation (tDCS). Primary outcome was the clinical effects on blepharospasm (blink rate observation by an investigator blinded to the intervention and subjective rating by the patient); secondary outcome was the blink reflex recovery curve (BRR)., Results: lfrTMS resulted in a significant improvement over all 4 brain areas for physician rating, patient rating, and BRR, whereas cTBS and tDCS showed only trends for improvement in physician rating, but no improvements for patient rating and BRR. lfrTMS had a significantly higher effect over AC than MC for physician rating, but no differences were seen for other pairwise comparisons of stimulated brain areas., Conclusions: Electrophysiologic and clinical improvements by functional inhibition of the medial frontal areas using low-frequency repetitive transcranial magnetic stimulation suggests that hypersensitivity of the anterior cingulate is directly or indirectly involved in the pathophysiology of benign essential blepharospasm. Inhibition of these areas using low-frequency repetitive transcranial magnetic stimulation could provide a therapeutic tool and is worthy of a larger study.

The objective was to analyze the metric properties of the Jankovic Rating Scale (JRS) and a self-rating patient response outcome scale, the Blepharospasm Disability Index (BSDI), in blepharospasm patients. Data from a randomized, double-blind, active-control clinical trial in 300 patients with blepharospasm treated with either botulinum toxin type A (Botox) or NT201 (Xeomin) were used to evaluate the metric properties of the JRS and the BSDI compared with the Patient Evaluation of Global Response (PEGR) and Global Assessment Scale (GAS). The internal consistency of the BSDI was high, Cronbach's Alpha = 0.88, and the retest reliability of the BSDI single items was adequate, Spearman's rank coefficient = 0.453 < r < 0.595. The correlation between JRS sum score and BSDI weighted mean score was r = 0.487 (baseline) and r = 0.737 (control visit), respectively. Using the GAS and PEGR, the results suggest that a change of 2 points in the JRS and of 0.7 points in the BSDI are clinically meaningful. JRS and BSDI are objective indicators of clinical efficacy as suggested by their good validity when compared with physicians' and patients' rating scales. Both, JRS and BSDI, can be used to reliably assess blepharospasm in treatment trials., ((c) 2008 Movement Disorder Society.)

Objectives: The aims of this study were to identify the clinical and demographic factors influencing health-related quality of life (HR-QoL) and to compare HR-QoL measures between various types of focal dystonia (cervical dystonia, blepharospasm, and writer's cramp)., Methods: We examined 157 consecutive patients with adult-onset primary focal dystonia, and HR-QoL was assessed by using the SF-36 questionnaire. Univariate and multivariate regression analyses were performed., Results: Patients with writer's cramp scored better in all SF-36 domains, except role functioning physical (RP), while these differences were statistically significant for physical functioning (PF) (p=0.020), bodily pain (BP) (p=0.001), and general health (GH) (p=0.004). Patients with writer's cramp and blepharospasm scored significantly better for BP (p=0.001) than patients with cervical dystonia. We found that each of the eight dimensions of SF-36 proved to be significantly correlated to the Hamilton depression rating scale score in patients with torticollis and blepharospasm, while vitality (VT), social functioning (SF), and mental health (MH) scales showed statistically significant correlations in patients with hand dystonia. Similar relationships were observed between anxiety and SF-36 domains., Conclusion: Depression and anxiety are the most important predictors of poorer HR-QoL in patients with all three types of focal dystonia.

Background: The aim of this paper was to study blinking parameters using a videonystagmography device, in order to objectively determine disability, and to assess the efficiency of botulinum toxin injection in patients with essential blepharospasm., Methods: Blinking was studied using the features of pupillary occlusion (PO) as recorded on a videonystagmography device. In 23 patients presenting with essential blepharospasm, we studied the frequency, the percentage, the mean duration of PO, and the longest PO in a 5-minute test period. Patients were tested prior to botulinum toxin injection, and 1 month and 3 months after injection, respectively. PO levels lower than 0.3 s and higher than 0.3 s were studied separately., Results: At 1 month after injection, botulinum toxin significantly influenced PO higher than 0.3 s, both in frequency (9.6/min +/- 8.2 on Day 0 and 4.7/min +/- 7.2 at Month 1; p = 0.004), and in mean duration (0.95 s +/- 0.84 on Day 0 and 0.58 s +/- 0.34 at Month 1; p = 0.03). On the other hand, we found no significant effect on PO lower than 0.3 s, both in frequency (32.4/min +/- 28.4 on Day 0 and 31.3/min +/- 29.0 at Month 1; p = 0.7) and in mean duration (0.16 s +/- 0.04 on Day 0 and 0.15 s +/- 0.03 at Month 1; p = 0.04). Botulinum toxin also significantly influenced the mean duration of the longest PO (6.44 s +/- 9.4 on Day 0 and 1.55 s +/- 1.9 at Month 1; p = 0.004) as well as the percentage of PO (29.95% +/- 24.6 on Day 0 and 13.44% +/- 11.1 at Month 1; p = 0.003)., Conclusions: PO can be used as the indirect sign of blinking. Videonystagmography provides a real-time result, and could be used to objectively evaluate the effect of botulinum toxin treatment in essential blepharospasm patients.

Purpose: Cicatricial pemphigoid is a rare chronic autoimmune disease, characterized by progressive alterations on the skin and mucous membranes. Ocular lesions consists of chronic conjunctivitis, progressive subepithelial fibrosis on the conjunctival fornix together with symblepharon formation, obstruction of the Meibomian ducts, sicca syndrome, and occasionally, entropion associated with consequent trichiasis and corneal ulcers., Methods: A 9-year-old patient with cicatricial pemphigoid with severe eye involvement came to our observation. A complete anamnesis, ophthalmologic examination, and systemic evaluation, including serum antibody levels evaluation and biopsies of mouth, vulva, parotid, and intestine mucosa, were performed., Results: Ocular examination showed blepharospasm, conjunctival hyperemia, symblepharon, total cicatricial corneal leucoma, severe dryness, trichiasis, and eyelid edema. The results of medical and surgical treatment are reported., Conclusions: Given the serious clinical picture, possibly due to a late diagnosis, it was not possible to avoid relapse and appearance of new cicatricial adherences for which we considered wait and see the most appropriate approach, protecting the anterior segment of both eyes, sacrificing their function. Further follow-up was not possible as the patient died. An early diagnosis would have had a significant influence on the clinical course and on the response to therapy.

Background: Primary late-onset focal dystonias may spread over time to adjacent body regions, but differences in the risk of spread over time among the various focal forms and the influence of age at dystonia onset on the risk of spread are not well established., Methods: Patients presenting with primary late-onset focal blepharospasm (BSP, n = 124), cervical dystonia (CD, n = 73) and focal hand dystonia (FHD, n = 24) with 10 years or more of disease duration (mean +/- SD, 15.3 (SD 4.9) years) were included in the study. The relationship between demographic/clinical variables and spread of dystonia was assessed by Kaplan-Meier survival curves and Cox proportional hazard regression models., Results: Patients starting with BSP, CD and FHD had similar age, sex and disease duration. Age at dystonia onset, age at initial spread and the risk of initial spread were significantly higher, whereas time elapsing from onset to initial spread was significantly lower in the BSP group than in those with onset in the neck or in the upper extremities. Conversely, these parameters were similar in the CD and FHD groups. The greater risk of spread in the BSP group was mainly evident in the first 5 years of history; thereafter, it declined and became similar to that of patients with CD/FHD. The difference in the risk of initial spread by site of onset was partly confounded by age at dystonia onset. Site of and age at dystonia onset, and age at first spread, were not significant predictors of the risk of a second spread., Conclusion: This study adds new insights into the phenomenon of spread of primary late-onset focal dystonia and provides the framework for future studies aimed at an indepth investigation of the mechanism(s) of spread.

Diffusion tensor imaging (DTI) analyses the movement of water molecules within the cerebral white matter thus providing information on ultrastructural brain changes. We studied 18 patients with cervical dystonia (CD), 16 with blepharospasm (BSP) and 35 years age-matched healthy controls. DTI data were obtained with a Philips 1.5 Tesla scanner and then processed to obtain maps of fractional anisotropy (FA) and mean diffusivity (MD). Twenty-three square regions of interest of uniform size were positioned on the FA maps and then automatically transferred to the MD maps. FA and MD values in the corpus callosum, left and right putamen, right caudate, left and right pre-frontal cortical area and left supplementary motor area in CD patients differed significantly from those in healthy controls. No significant regional differences were found between patients with BSP and healthy controls. In the CD group, age, duration and severity of dystonia did not correlate with regional FA/MD values, whereas the duration of botulinum toxin treatment correlated significantly with the MD value in the right-pre-frontal cortex. The abnormal DTI findings in patients with CD suggest the presence of brain ultrastructural changes in adult-onset primary CD.

Background: Primary congenital glaucoma generally presents with a classic clinical triad of photophobia, blepharospasm, and epiphora caused by the corneal changes that occur secondary to increased intraocular pressure (IOP). The condition typically presents bilaterally and is rarely hereditary. Onset is from age 2 months to 2 to 3 years., Case Report: A 2-year, 5-month-old Hispanic boy presented with an enlarged right eye and an intermittent right exotropia, without tearing or photophobia. Examination also found high myopia and an optic nerve cup-to-disc ratio larger in the right than the left eye. Referral to a pediatric ophthalmologist was initiated. On the first examination under anesthesia (EUA), the child was diagnosed with unilateral megalocornea with a normal IOP. He did not have any other typical signs and symptoms of primary congenital glaucoma. An EUA 8 months later led to a diagnosis of primary congenital glaucoma based on the new appearance of Haab's striae, further enlargement of the cornea, and an elevated IOP. At this point, medical management was instituted., Conclusion: This case shows the importance of recognizing signs of primary congenital glaucoma so that appropriate management can begin as soon as possible to provide the best visual outcome for a child.

We previously observed that diseases of the anterior ocular segment predispose to primary blepharospasm, but not to other focal dystonias. In this multicenter study, we tested whether prior scoliosis, which increases the risk of developing cervical dystonia, is also a predisposing factor to blepharospasm. The frequency of scoliosis did not differ between blepharospasm patients and controls. This finding supports the hypothesis that environmental risk factors may be specific for a single form of adult-onset dystonia., ((c) 2006 Movement Disorder Society.)

Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia., ((c) 2006 Movement Disorder Society.)

We present a patient with a facial movement disorder that has characteristics of both blepharospasm and bilateral asynchronous hemifacial spasm. Because of the increased incidence of blepharospasm in patients with hemifacial spasm, our patient's clinical presentation is probably not a chance occurrence, but rather a manifestation of some predisposition for these two movement disorders. This unusual constellation of signs and symptoms challenges the current diagnostic criteria and suggests that some of these facial movement disorders may lie on a spectrum, rather than represent distinct entities., ((c) 2006 Movement Disorder Society.)

An epidemiological survey of primary focal dystonias in the western area of Tottori Prefecture in Japan was conducted in 2003, and the results were compared with those of a previous survey in 1993. The service-based prevalence of primary focal dystonia was 13.7 per 100,000 population, representing an increase from that found in the 1993 survey. In 1997, botulinum toxin type A was approved for use in Japan to treat blepharospasm, and the increased number of patients now being evaluated and diagnosed with focal dystonias at medical centers throughout Japan may be responsible for this increased prevalence. Prevalence by subtype per 100,000 population was as follows: facial dystonia, 6.5; spasmodic torticollis, 2.0; writer's cramp, 4.4; and other focal dystonias; 0.8. Facial dystonia showed the most marked increase in service-based prevalence among these subtypes., ((c) 2006 Movement Disorder Society.)

Purpose: Botulinum toxin injection is the treatment of choice in cases of benign essential blepharospasm. However, about 10% of the patients do not get sufficient effect from this treatment, and many of them have concomitant apraxia of lid opening., Methods: Over a 3-year period we treated 12 patients. Three had pure apraxia of lid opening and in the other nine it was associated with blepharospasm. All patients were initially treated with botulinum toxin injections with poor results. They underwent surgical treatment like blepharoplasty, limited myectomy, aponeurosis repair, and/or frontalis suspension. Some of them needed post operative botulinum toxin injections in the pretarsal part of orbicularis oculi muscles., Results: This combined therapy gave good functional and aesthetic results., Conclusions: The specific causes of blepharospasm and apraxia of lid opening are unknown, but these two conditions coexist in some patients and can be difficult to treat. It is important to make a correct diagnosis, and a combined surgical and botulinum toxin treatment can be very effective.

The basal ganglia seem to be involved in emotional processing. Primary dystonia is a movement disorder considered to result from basal ganglia dysfunction, and the aim of the present study was to investigate emotion recognition in patients with primary focal dystonia. Thirty-two patients with primary cranial (n=12) and cervical (n=20) dystonia were compared to 32 healthy controls matched for age, sex, and educational level on the facially expressed emotion labeling (FEEL) test, a computer-based tool measuring a person's ability to recognize facially expressed emotions. Patients with cognitive impairment or depression were excluded. None of the patients received medication with a possible cognitive side effect profile and only those with mild to moderate dystonia were included. Patients with primary dystonia showed isolated deficits in the recognition of disgust (P=0.007), while no differences between patients and controls were found with regard to the other emotions (fear, happiness, surprise, sadness, and anger). The findings of the present study add further evidence to the conception that dystonia is not only a motor but a complex basal ganglia disorder including selective emotion recognition disturbances., (Copyright (c) 2005 Movement Disorder Society.)

Purpose: To assess a new scale for grading functional disability in a series of patients operated on for blepharospasm resistant to treatment by botulinum toxin (BT) injections., Methods: The bicentric study included 138 patients: 80 (58%) with essential blepharospasm; 46 (33%) with apraxia of eyelid opening; and 12 (9%) with intermediate forms. They had undergone orbicularis myectomy (92 cases, 67%), frontalis suspension (31 cases, 22%), or both (15 cases, 11%). Functional disability was assessed by using an original scale covering 6 daily life activities, each graded using 5 levels from 0 (no disability) to 4 (activity impossible). The score obtained was related to the total of activities actually performed to produce a functional disability score (FDS) from 0 to 100. Each patient's FDS was prospectively determined, before surgery and 3 months after surgery (M3). In patients who, after surgery, required a further course of BT injections, the FDS was assessed immediately before the third injection., Results: The mean FDS fell significantly, from 78 +/- 15 (standard deviation) before surgery to 45 +/- 21 at M3 (p < 0.01%), whatever the clinical form of essential blepharospasm or surgical procedure. The mean postoperative FDS was significantly lower in the 62 patients (45%) weaned off BT than in the unweaned group, respectively (31 +/- 17 versus 56 +/- 18; p < 0.01). In the latter group, the mean FDS after BT reinjection (34 +/- 19) fell to a level comparable with that of the weaned patients., Conclusions: This accurate, easy-to-use scale makes it possible to quantify in patients with blepharospasm functional improvement as the result of surgery and, where applicable, of BT reinjection.

Introduction: The eyelid movements are mediated mainly by the orbicularis oculi (OO) and the levator palpebrae superioris (LPS) muscles. Dissociated upper lid functions exhibit different counterbalanced action of these muscles, and in blinking they show a strictly reciprocal innervation. The disturbance of this close LPS-OO relationship likely leads to many of the central lid movement disorders., Development: Two major lid postural disorders, the blepharospasm (BSP) and the blepharocolysis (BCO), share two different clinical aspects: the involuntary eyelids' closure along with the inability to open the eyes. BSP consists of an involuntary overactivity of the OO, with LPS co-contraction activity, and is expressed as frequent and prolonged blinks, clonic bursts, prolonged tonic contraction or a blend of all of them. BCO (commonly named 'so-called lid opening apraxia') is an involuntary overinhibition of the LPS muscles with no evidence of ongoing OO activity; it exists a co-inhibition of these muscles. BSP and BCO occur in many instances of idiopathic dystonias and basal ganglia diseases and, less frequently, in rostral brainstem lesions. Both may coincide in the same patient., Conclusions: BSP and BCO should be considered different expressions of the dystonic focal eyelid movement disorders, related to the increase of the two counteracting components of the normal eyelid motor and blinking patterns: the excessive OO activation in the BSP; the excessive LPS inhibition in the BCO.

Dystonia is characterized by involuntary muscular contractions resulting in repetitive movements and/or postures, with co-contraction of antagonist muscle groups. the present overview describes the fundamentals of dystonic movement disorders, and provides information on their diagnosis and therapy, including in particular the not infrequent focal dystonias spasmodic torticollis, blepharospasm, and writer's cramp, and the generalized forms. For the practitioner it is of primary importance to be able to recognize these sometimes bizarre movement disorders as dystonias. In many cases, the correct diagnosis makes possible effective treatment that frequently results in an appreciable improvement in the patient's symptoms.

We report on a patient who presented a transient eyelid motor disorder characterized by bilateral reflex blepharospasm as the main clinical manifestation of a right-sided striatal infarction. This case emphasizes the role of the nondominant striatum in the pathophysiology of eyelid motor abnormalities.

Background: Persistent, frequent, nonepileptic paroxysmal eyelid movements were observed in 19 children and adults with well-controlled generalized epilepsy., Methods: Patients were identified from five epilepsy centers., Results: Seventeen patients were female and two male. All had generalized photosensitive epilepsy requiring antiepileptic drugs (AEDs). In two children, paroxysmal eyelid movements began 2 to 4 years before their epilepsy was noted; in the remainder, it was noted when epilepsy was first diagnosed. Age at last follow-up was 8 to 38 years (average 21 years) with average follow-up of 9 years. All patients showed photosensitive generalized spike-wave discharges on EEG. Paroxysmal eyelid movements were a source of diagnostic confusion, but direct examination and video during EEG recording distinguished the attacks from absence seizures. In all cases, the epilepsy is completely or nearly completely controlled with AEDs, but the paroxysmal eyelid movements have not resolved with age. In 12 cases, there was a family history of the eyelid disorder without epilepsy. Videos of patients and an affected parent are available on the Neurology Web site., Conclusion: There is an association between paroxysmal eyelid movements and photosensitive generalized epilepsy, creating diagnostic confusion.

We report on a 39-year-old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia., (Copyright 2003 Movement Disorder Society)

Although blepharospasm has been occasionally associated with parkinsonism, it has rarely been reported in patients with multiple system atrophy (MSA). We report a 65-year-old woman with MSA who developed blepharospasm seven years after onset, rendering her functionally blind. Clinical course and the findings of magnetic resonance imaging indicated cerebellar type MSA. The blink reflex studies showed prolonged R2 response and enhanced recovery cycle, indicating an increased excitability of the brainstem interneurons. These results suggest that pathophysiology of blepharospasm in MSA is similar to that of essential blepharospasm. Recognition of blepharospasm in MSA patients is important, as blepharospasm is a treatable feature in this otherwise intractable disorder.

The benign essential blepharospasm is a subliminal form of primary torsion dystonia with still uncertain aetiology. It is characterized by involuntary convulsive muscle contractions of the M. orbicularis occuli, accompanied by unbearable pain of the cornea, eye bulb and the muscle itself. It has been suggested that blepharospasm is neurobiologically based on a dysfunction of the basal ganglia and an impairment of the dopamine neurotransmitter system. Therefore, therapy of blepharospasm contains administration of anticholinergic- and tranquillizing drugs as well as botulinum toxin as neuromuscular blocking agent. However serious side effects can be observed as well as failure of therapy. In the brain a dense co-localisation of cannabinoid (CB1) and dopamine (D2)-receptor was identified which had been associated with the influence of cannabinoids on the dopaminergic reward system. Additionally, it has been demonstrated that cannabinoids may have an impact on the central GABAergic and glutaminergic transmitter system and thus might be involved in the influence of movement control. In the present case we administered the cannabinoid receptor agonist Dronabinol (Delta-9-Tetrahydrocannabinol) to a woman suffering from severe blepharospasm. Multiple treatments with botulinum toxin did not reveal a long-lasting beneficial effect. By contrast, treatment with 25 mg Dronabinol for several weeks improved the patients' social life and attenuated pain perception remarkably. This case study demonstrates that the therapy with a cannabinoid agonist may provide a novel tool in the treatment of blepharospasm and maybe of other multifactorial related movement disorders.

Primary blepharospasm is an adult-onset focal dystonia characterised by involuntary contractions of the orbicularis oculi muscles. Patients may have various types of movements arising from the different parts of the orbicularis oculi muscle. These include typical blepharospasm associated with Charcot's sign, pretarsal blepharospasm and flickering of the eyelids. Primary blepharospasm may be associated with so-called apraxia of eyelid opening as well as dystonia in the lower face, jaw or cervical muscles. Unless there are clinical clues to a symptomatic cause, adults presenting with blepharospasm do not require extensive aetiological investigation because the condition is rarely due to an identifiable condition. As the aetiology of primary blepharospasm is largely unknown, therapeutic approaches are symptomatic, with type A botulinum toxin being the treatment of choice.

A 3-year-old Great Dane with bilateral possible essential blepharospasm resulting in ocular complications is described. Conservative treatment was not successful and the disease was treated with local injections of botulinum toxin A into the orbicularis oculi muscle. Blepharospasm disappeared completely 5 to 6 days after injection and did not reappear until 3 to 4 months later, at which time the injection was repeated. After several treatments over a period of more than 3 years no side effects have occured. Botulinum toxin A appeared to be effective in the treatment of essential blepharospasm in this dog.

Objective: To investigate brain areas involved in the initiation and execution of eyelid spasm in patients with benign essential blepharospasm., Methods: The authors used fMRI and correlated the blood oxygenation level-dependent (BOLD) signal with epochs of frequent eyelid spasm in six patients and with epochs of voluntary eye blinks in four healthy subjects., Results: Spasm epochs were accompanied by activation in a subregion of the putamen in all patients, whereas voluntary blinking in healthy subjects was not. Other areas of activation common to patients and healthy subjects included frontal and parietal operculum, supplementary motor area, primary sensorimotor cortex, various visual areas, and the cerebellum., Conclusions: The striatum may be involved in the initiation or execution of eyelid spasm. Future studies, possibly including electromyography (EMG) during fMRI, are needed to detect the sequence and role of other concomitantly activated areas.

Dystonia is a syndrome of sustained muscular contractions with numerous underlying etiologies. This review examines the varied phenomenology of dystonias, its evolving classification including recent genetic data as well as its clinical investigation and treatment. Although age of onset, anatomical distribution and family history are key elements of the investigation of dystonia, classification increasingly relies on etiologic and genetic criteria. Physiological abnormalities in striato-cortical circuits are common in dystonia but the pathophysiology is still unclear. In recent years, a great deal has been learned on the more common primary dystonias such as primary torsion dystonia and on dystonia-plus syndromes such as dopamine responsive dystonia. Treatment of dystonia has also evolved and there are now a number of therapeutic agents with clear beneficial effects including anticholinergics, benzodiazepines, and botulinum toxin and there is growing interest in neurofunctional surgery including deep brain stimulation.

Benign essential blepharospasm is a common focal dystonia characterized by involuntary eyelid closure. Its etiology, supported by animal models, appears to be multifactorial, representing the influence of a genetic background and an environmental trigger. The genetic background could be responsible for the reduced brain inhibition, identified with physiologic studies that would set up a permissive condition for increased brain plasticity. Reduced D2 receptors identified with PET might be an indicator of this reduced inhibition. The trigger could be repetitive use or local ocular disease. Although symptomatic therapy is available, better approaches are needed and will likely become available as the genetics and pathophysiology become well understood.

Focal dystonias are relatively rare and significantly disabling disorders. These include cervical dystonia, blepharospasm and hemifacial spasm. The spasmodic torticollis consists of tonic posturing of the head away from its neutral position or twisting of the cervical muscles. The blepharospasm is an abnormal blinking, eyelid tic or twitch resulting from any cause. The hemifacial spasm is an involuntary unilateral twitching of the facial muscle. Patients affected by focal dystonias are predominantly females, and many times psychical stress can be revealed. The pathogenesis may involve dysfunction of the basal ganglia and brain stem although the exact mechanism remains to be elucidated. The patients need to be diagnosed and treated in centers specialized in movement disorders. Although many drug treatments can be beneficial, the most effective treatment is the local Botulinum toxin injection into the affected muscles. This neurotoxin produces temporary neuromuscular blockade, which reveals the symptoms and pain. The effect of the toxin is temporary and, therefore, the injection needs to be repeated every 6-12 weeks. The most common side effects are hypersensitivity, bleeding, hematoma, ptosis, facial spasm, dysphasia or dysarthria. With the use of proper dose and injection sites these side effects can be avoided.

Background: Apraxia of lid opening (ALO) is a nonparalytic inability to open the eyes at will in the absence of visible contraction of the orbicularis oculi (OOc) muscle., Objective: To test the hypothesis that sustained activity of the OOc is a major factor in the difficulty in opening the eyes in this condition., Methods: Lid movement detected in an electromagnetic field and electromyogram activity of the septal and pretarsal portions of the OOc were recorded in 12 healthy control subjects and 12 patients with a clinical diagnosis of ALO. The latencies to onset and to complete eye opening and the time during which eye opening was sustained were measured and analyzed in relation to OOc activity., Results: The lid opening latencies and the lid movement duration were significantly increased in patients compared with control values. An abnormal persistence of OOc activity was present in 10 of the 11 patients with a delay in complete lid opening. The complete lid opening delay showed a strong positive correlation with the time it took to inhibit the OOc activity. This relationship fit the same linear regression in both groups., Conclusions: Patients with ALO show significant delays in eye opening. An abnormal persistence of OOc activity, detectable electromyographically but not clinically, could be the main factor contributing to the delay in lid opening in these patients.

We report on a patient with transient facial myokymia. He had an isolated lesion of the right facial nucleus in the pontine tegmentum. Facial myokymia is a rare symptom and its pathogenesis is not known. Our case had a very localized lesion and we attempted to determine the case of the facial myokymia.

Objective: To determine the characteristics and causes of excess blinking in children and to determine outcomes after treatment., Design: Prospective, noncomparative, consecutive case series., Participants: Ninety-nine consecutive children who presented for evaluation of excessive blinking over a 2 year period., Methods: Children less than 16 years of age who had excessive blinking as their sole or major chief complaint underwent detailed history and ophthalmologic examination. Treatment was recommended based on clinical examination findings. Follow-up evaluations were performed at least 2 months after initial examination., Main Outcome Measures: Etiology of excess blinking and patient characteristics in each diagnostic group., Results: The majority (89%) of children presented with bilateral excessive blinking. Boys outnumbered girls at a ratio of almost 2:1. The most common etiologies were anterior segment and/or lid abnormalities (37%), habit tics (23%), uncorrected refractive errors (14%), intermittent exotropia (11%), and psycogenic blepharospasm (10%). A history of neurologic disease was present in 22% of the patients but was not causally related to the excessive blinking in most cases. Vision-threatening disease was noted in 6% and was easily detected on standard clinical examination. Life-threatening disease was the cause in 4% of the children, but the presence of life-threatening disease was already known in all such patients., Conclusions: Excessive blinking in children can occur because of a large number of potential problems. Most cases are caused by benign and/or self-limiting conditions. The cause can usually be determined after careful history and clinical examination and routine neurologic evaluation and neuroimaging is unnecessary.

Purpose: To present the ophthalmic manifestations of patients with Gilles de la Tourette syndrome (GTS)., Methods: Sixteen children (average age 11.5 years), with multiple motor and vocal tics, with a diagnosis of GTS, were included in this study. All underwent a full ophthalmological examination., Results: All patients except one amblyopic case had best corrected visual acuity of 20/20 in both eyes. Eleven patients (68%) had eye tics; nine had clonic blepharospasm and two had involuntary gaze deviations. Four cooperative children underwent visual field examination with Goldmann perimeter, no visual field defect was detected. Three patients had strabismus (one alternating exotropia and two partially accommodative esotropia). Anterior and posterior segment examinations were within normal limits. The symptoms improved considerably in 82% of the patients with eye tics on treatment with a neuroleptic (pimozide)., Conclusions: Blepharospasm was the most common ophthalmic manifestation of GTS. Ophthalmologists should consider a diagnosis of GTS in the absence of any organic eye pathology that may cause blepharospasm and refer these cases to a child psychiatrist. These children benefit from a treatment with neuroleptics under the supervision of a psychiatrist.