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.

[Efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome].

Objective: To evaluate the efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome. Methods: The Clinical data of 56 patients with Meige syndrome in the Department of Pain Medicine, Affiliated Hospital of Jiaxing University from June 2019 to January 2023 were retrospectively analyzed [19 males and 37 females, aged 42-76 (58.6±8.3) years], including 51 cases of blepharospasm, 3 cases of oromandibular dystonia and 2 cases of blepharospasm concomitant with oromandibular dystonia. CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves was performed on different types of Meige syndrome. And the efficacy and complications of the technique were observed. Results: Fifty-one patients with blepharospasm Meige syndrome underwent CT-guided radiofrequency of facial nerve through bilateral stylomastoid foramen punctures, the symptoms of blepharospasm disappeared completely, leaving bilateral mild and moderate facial paralysis symptoms. Three patients with oral-mandibular dystonia underwent CT-guided radiofrequency therapy by bilateral foramen ovale puncture of mandibular branches of trigeminal nerve, masticatory muscle spasm disappeared, the patients had no difficulty opening the mouth, and the skin numbness in bilateral mandibular nerve innervation area was left. Two cases of Meige syndrome with blepharospasm concomitant with oromandibular dystonia were treated by radiofrequency of facial nerve and mandibular branch of trigeminal nerve, and all symptoms disappeared. The patients were followed up for 1-44 months after the operation, and the symptoms of mild and moderate facial paralysis disappeared at (3.2±0.8) months after the operation, but the numbness did not disappear. Three patients with blepharospasm recurred at the 14, 18 and 22 months after the operation, respectively, while the rest cases did not recur. Conclusions: According to different types of Meige syndrome, CT-guided partial radiofrequency ablation of responsible cranial nerves can effectively treat the corresponding type of Meige syndrome. The complications are only mild and moderate facial paralysis which can be recovered, and/or skin numbness in the mandibular region.

Blepharospasm as a tardive manifestation of COVID-19 disease: A case report.

We report three cases of blepharospasms developed after a symptomatic COVID-19 infection, in order to describe a possible association between COVID-19 infection and essential blepharospasm. Blepharospasm could represent a late sign of COVID-19 infection (more than four weeks after the contagion) and may be triggered by the neurotropism of the coronavirus.

DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype.

DNAJC6 mutation causes two types of phenotypes: slowly progressive parkinsonism with levodopa response and rapidly progressive parkinsonism with additional manifestations like intellectual disability, epilepsy etc. We report a new phenotype wherein an adolescent girl developed blepharospasm followed by jaw opening, lingual and cervical dystonia followed by tremors of limbs (rest and action) with rigidity, bradykinesia. The dystonia-parkinsonism phenotype has not been described. She had novel homozygous missense mutation in DNAJC6 gene.

Blepharospasm With Photophobia Secondary to Midbrain Tuberculoma and Thalamic Infarct.

INTRODUCTION: Blepharospasm is a type of focal dystonia and categorized into primary and secondary forms, based on whether or not a cause can be established. Secondary blepharospasm is uncommon and can be associated with underlying brain lesions. Photophobia is a prominent complaint in blepharospasm patients. We are reporting a case of secondary blepharospasm with photophobia in a patient who had underlying midbrain tuberculoma and thalamic infarcts. This type of presentation has not been reported to the best of our knowledge. CASE REPORT: A 26-year-old man presented to us with the complaint of increased blinking and involuntary closure of both eyes for 1 year. He had a past history of tubercular meningitis 16 years back when he presented with bilateral ptosis, left up gaze palsy and right hemiparesis suggestive of Weber syndrome. His magnetic resonance images of the brain were suggestive of multiple intracranial tuberculomas, thalamic infarcts, and noncommunicating hydrocephalus. Following treatment he recovered significantly with no residual neurological deficit except mild bilateral ptosis. His recent magnetic resonance images of the brain was suggestive of calcified granuloma in the midbrain and chronic left thalamic lacunar infarcts. He was treated with injection Onabotulinum toxin and his symptoms improved significantly. CONCLUSIONS: Our patient had tuberculoma in the midbrain and chronic infarcts in the thalamus, and both lesions may cause blepharospasm and photophobia independently, so it is difficult to ascertain the causative lesion in our patient. However, it is possible that these heterogenous lesions are all part of a single functionally connected brain network and further studies are required to confirm this hypothesis.

Orbital varix: rare cause of blepharospasm.

Orbital varix (or varicose) is an exceptional pathology with poor clinical sign. The blepharospasm can be a revealing cause. The long-term risk is optic atrophy and blindness. Magnetic resonance imaging is the best diagnostic tools. The rise of lesion dimensions by Valsalva maneuvers and prone position is characteristic. We report the observation of a 42-year-old young man, consulting for a blepharospasm of the left eye evolving for two years. Imaging investigations made the diagnosis of orbital varicose.

Blepharospasm as a Manifestation of Peak of Dose Dyskinesia in Parkinson Disease.

OBJECTIVES: The aim of the study was to report 4 patients with Parkinson disease (PD) and On-period blepharospasm (BS). METHODS: We analyzed patients with PD and motor fluctuations who developed BS in several different centers in Latin America. RESULTS: Four patients had BS while in the ON periods. CONCLUSIONS: Blepharospasm in the On period in patients with PD is extremely uncommon, and our series is the only one to describe such association.

Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. / Experiencia clínica en pacientes con síndrome de Meige primario y disfonía espasmódica.

INTRODUCTION: Meige syndrome (MS) is part of the group of segmental cranial dystonias, which affect more than two cranial muscle groups. Specifically, blepharospasm is associated with another cranial dystonia (oromandibular, cervical or laryngeal). The aim of this paper was to report our experience in patients with spasmodic dysphonia (SD) associated with primary MS. MATERIAL AND METHODS: A retrospective study involving 8 patients between May 2010 and June 2015. Variables recorded were: age, sex, associated dystonia, electromyographic pattern in laryngeal muscles and treatment given. Outcomes after treatment were assessed using GRBAS(i) scale and VHI-30 questionnaire, always provided by the same examiner. RESULTS: Fifty-six patients with MS were treated in the Neurology Department. Eight patients of 56 were diagnosed with SD (prevalence of 14%). All of our patients had adductor SD. The median age was 71years. All the patients were treated with intralaryngeal botulinum toxin under electromyographic control. Clinically relevant improvements were found after treatment on both the GRBAS(i) scale and the VHI-30 questionnaire. CONCLUSION: In the study of SD, we should always rule out an association with MS. From the point of view of otorhinolaryngology, the joint use of the GRBAS(i) scale and the VHI-30 questionnaire are useful, reliable and efficient methods for assessing progress and response to treatment. Laryngeal infiltration under electromyographic control with botulinum toxin is the therapeutic alternative that provides better results. The management of SD associated with MS does not differ from isolated SD.

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.

[Non-motor disorders in patients with muscular dystonia]. / Nedvigatel'nye narusheniia u patsientov s myshechnoi distoniei.

Non-motor disturbances represented by sensory, affective, obsessive-compulsive disorders, cognitive dysfunction, sleep disturbances are often found in patients with dystonia and have a negative impact on their quality of life. The prevalence of sensory and affective disorders and sleep disturbances is above 50% in patients with cervical dystonia and is 25% in patients with blepharospasm, writing spasm; cognitive dysfunction is found in more than 25% of patients with focal dystonia. The relationship of non-motor, in particular psychiatric disorders, with the impairment of social and everyday life and worsening of quality of life in whole was shown. Common pathophysiological mechanisms of non-motor disorders as well as approaches to treatment of these disorders are discussed. The authors present the results on the positive effect of botulinum toxin therapy that reduces cognitive dysfunction, sensory disorders and depressive syndrome. Non-medication treatment of non-motor disorders in patients with dystonia is considered.

Developments in the treatment of benign essential blepharospasm.

PURPOSE OF REVIEW: To review new developments in the medical and surgical treatment options for benign essential blepharospasm (BEB). RECENT FINDINGS: Botulinum toxin injections remain the mainstay treatment for BEB with several formulations currently commercially available. Reports in the medical literature support photochromatic modulation for the symptoms of photophobia, as well as oral medications and surgical myectomy for control of the motor signs of eyelid protractor spasm. SUMMARY: Although there remains no cure for BEB, several treatment options are available to effectively manage the signs and symptoms of the condition.

Spinocerebellar Ataxia Type 31 with Blepharospasm.

A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). Single photon emission computed tomography (SPECT) with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus. Although the association between SCA31 and blepharospasm in our patient remains unclear, we considered that this combination might be more than coincidental.

Botulinum Toxin Therapy for Parkinson's Disease.

Botulinum toxin (BoNT) therapy is frequently employed in the treatment of Parkinson's disease (PD) symptoms. It can effectively ameliorate the symptoms of cervical dystonia, blepharospasm, sialorrhea, and hyperactive bladder. It is increasingly being used for additional PD-related indications including limb dystonia, oromandibular dystonia, tremors, constipation, dysphagia, gastroparesis, and sweating dysfunction. Botulinum toxin treatment has mostly local side effects and does not interfere with dopaminergic therapies prescribed for PD. With the exception of dystonia and sialorrhea, most evidence for BoNT efficacy is derived from studies conducted in nonparkinsonian populations. Thus, the data to inform typical response pattern and side-effect profile in PD are still evolving. Nevertheless, BoNT is widely used and is an important tool in the PD-treatment arsenal. In this review, the authors discuss the current literature on the use of BoNT in various PD-related motor and nonmotor disorders.

Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery.

Schwartz-Jampel syndrome is an autosomal recessive disease that comprises facial and musculoskeletal deformity. Hereby, the authors report 2 cases of Schwartz-Jampel syndrome and surgical method of their management. The first case was a boy who was result of twin delivery whose sibling was completely normal. The second case was a girl who was the first child of her family. Both were born to a consanguineous marriage. Both had developed characteristic facial expressions of Schwartz-Jampel syndrome between 18 and 24 months of age. They had Botulinum toxin A injection (twice in the first and ones in the second case) with no improvement. Both were referred because of being functionally blind due to inability to open the eyelids around age 3.5 years. Orbicularis oculi myectomy, partial corrugator muscle excision, levator tucking, and lateral tarsal strip procedure was performed on both cases. No complication and no recurrence of eyelid contraction were observed after 4 years and 6 months follow up in the first and second case, respectively.

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.

Episodic Excessive Blinking in Children.

PURPOSE: Many children present with excessive blinking. Categorization, associated conditions, and prognosis are controversial. METHODS: All children with excessive blinking were reviewed, excluding those with known uveitis, glaucoma, or obvious eyelid abnormalities. Parents were telephoned for follow-up. RESULTS: No ocular pathology was identified in 31 of 34 children with excessive blinking (91%). Parents were able to report a specific cause of blinking in 7 (21%). In 24 of 34 (71%), parents reported complete resolution of excessive blinking. No new ophthalmologic diagnoses were uncovered on follow-up. CONCLUSIONS: Episodes of excessive blinking rarely indicate neurologic disorders and frequently resolve spontaneously.

Influence of involuntary eyelid spasms on corneal topographic and eyelid morphometric changes in patients with hemifacial spasm.

BACKGROUND/AIMS: In patients with hemifacial spasm (HFS), treatment relieves eyelid spasms on the affected side, thus changes in corneal topography and eyelid morphometry may be observed after treatment. We aimed to evaluate these parameters during a 4-month period in patients with HFS treated with botulinum toxin A (BTX-A). METHODS: This prospective study evaluated eyelid morphometric and corneal topographic changes in patients with HFS before onabotulinum toxin A application, and after 15 days and 2, 3 and 4 months. RESULTS: 24 patients were treated with BTX-A. On the normal side, the mean palpebral fissure height (PF), interpalpebral surface area (ISA), steep K and astigmatism values were 8.7±1.98 mm, 122.09±39.37 mm2, 44.99±1.45 D and 0.9±0.64 D, respectively, before treatment. A statistically significant difference was not observed in these parameters after treatment (p>0.05). On the affected side, the mean PF, ISA, steep K and astigmatism were 5.5±1.77 mm, 67.68±28.49 mm2, 46.91±3.57 D and 2.63±2.46 D, respectively, before treatment. We observed a statistically significant (p<0.05) increase in the mean PF and ISA on the affected side 15 days (8.36±1.91 mm and 115.92±34.44 mm2, respectively), 2 months (8.18±1.80 mm and 112.22±33.57 mm2, respectively) and 3 months (7.27±1.65 mm and 95.48±27.80 mm2, respectively) after treatment. A statistically significant decrease in steep K and astigmatism was observed at 2 months (45.14±1.20 D and 1.01±0.58 D, respectively) and 3 months (45.64±1.77 D and 1.36±1.31 D, respectively) after treatment. CONCLUSIONS: The results suggest that treatment with BTX-A in patients with HFS leads to eyelid and corneal changes on the affected eye that are significant during the known period of action of the toxin. Thus, caution should be taken when performing ophthalmological examination in patients with HFS, since it may vary according to BTX-A period of action.