Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia?
Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's camp preceded the syndrome in two patients. Eight other patients developed toritocollis, dystonic posturing of the arms, or involvement of respiratory muscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that this syndrome is due to an abnormality of extrapyramidal function, and that it is another example of adult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed. (+info)
Botulinum toxin treatment of hemifacial spasm and blepharospasm: objective response evaluation.
Twenty seven patients with hemifacial spasm (HFS) and sixteen patients with blepharospasm (BS) having mean Jankovic disability rating scale score of 2.56+0.58 SD and 2.81+0.54 SD, respectively, were treated with botulinum toxin A (BTX-A) injections. The total number of injection sessions were ninety one with relief response in 98.91%. The mean improvement in function scale score was 3.78+0.64 SD and 3.29+1.07 SD respectively, in HFS and BS groups. The clinical benefit induced by botulinum toxin lasted for a mean of 4.46+3.11 SD (range 2 to 13) months in HFS group and 2.66+1.37 SD (range 1 to 6) months, in BS groups. Transient ptosis was seen in 4.39% of total ninety one injection sessions. These findings show that local botulinum toxin treatment provides effective, safe and long lasting relief of spasms. (+info)
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group.
OBJECTIVES: Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS: 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS: Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS: The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm. (+info)
The effect of apomorphine on blink kinematics in subhuman primates with and without facial nerve palsy.
PURPOSE: The purpose of this study was to document the effect of acutely delivered apomorphine, a dopamine receptor agonist with both D1 and D2 properties, on blink rate and the amplitude-velocity characteristics of eyelid kinematics in a group of nonhuman primates. METHODS: Three cynomolgus and two rhesus macaques underwent baseline recordings for eyelid kinematics, using the Robinson search coil technique. Next, each animal received a 0.15-mg/kg subcutaneous injection of apomorphine. Recordings were taken at 45 and 90 minutes, respectively, after injection. Blink rates per minute were obtained, and main sequence relationships were calculated for every animal. The data were pooled for each eyelid, excluding one monkey who was affected by facial nerve palsy and was analyzed separately. RESULTS: Monkeys with normal facial musculature and normal baseline blink rates showed consistently longer, faster blinks after apomorphine. The main sequence relationship, although tending to be lower, was not statistically different from baseline. One monkey, with prior facial nerve palsy and a very steep amplitude versus peak velocity relationship, showed normalization of the main sequence slope after apomorphine at both 45 and 90 minutes after injection. CONCLUSIONS: Apomorphine consistently lowers blink rate and changed blink metrics in normal monkeys and, more dramatically, in a monkey with facial nerve palsy. These findings add credence to models in which dopamine deficiency plays a role in the modulation of blink kinematics. (+info)
Botulinum toxin A treatment in patients suffering from blepharospasm and dry eye.
BACKGROUND: Many patients with essential blepharospasm also show dry eye signs and symptoms. Botulinum toxin A is an effective treatment for reducing spasms in these patients. In this investigation, the effect of botulinum toxin A injections on tear function and on the morphology of the ocular surface in patients suffering from blepharospasm in combination with a dry eye syndrome was investigated. METHODS: Botulinum toxin A injections were applied to 16 patients with blepharospasm. All patients complained of dry eye symptoms and had reduced tear break up time values. A subjective questionnaire and ocular examinations including tear break up time, Schirmer test without local anaesthesia, and rose bengal staining were evaluated before, 1 week, 1 month, and 3 months after injection. Impression cytology was performed before, 1 month, and 3 months after botulinum toxin A treatment. RESULTS: Although all patients were relieved of blepharospasm after botulinum toxin injections, only three noticed an improvement in dry eye symptoms. Eight patients noticed no difference and five complained of worsening. Tear break up time was found to be increased 1 week and 1 month after injections. Schirmer test measurements were reduced up to 3 months. Rose bengal staining slightly increased 1 week after injections. Impression cytology showed no definite change in conjunctival cell morphology 1 month and 3 months after botulinum toxin A injections. CONCLUSION: In the patients presented here suffering from blepharospasm and dry eye, botulinum toxin A injections were effective in relieving blepharospasm but were not successful in treating dry eye syndrome. (+info)
Botulinum toxin therapy: distant effects on neuromuscular transmission and autonomic nervous system.
To evaluate distant effects of botulinum toxin, single fibre electromyography on the extensor digitorum communis muscle and six tests of cardiovascular reflexes were performed in five patients injected with BoTox (Oculinum(R) 20-130 units) for craniocervical dystonia and hemifacial spasm. Patients underwent two sessions of treatment and the second time the dosage was doubled. Botulinum toxin injection induced an increase of mean jitter value above normal limits in all cases. An increase of fibre density was recorded six weeks after the treatment. Cardiovascular reflexes showed mild abnormalities in four patients. The data confirm distant effects of botulinum toxin on neuromuscular transmission and on autonomic function. (+info)
Treatment of blepharospasm, hemifacial spasm and strabismus with botulinum a toxin.
Thirty patients with blepharospasm, hemifacial spasm, strabismus and entropion were treated with botulinum A toxin giving satisfactory results. Rapid spasm relief, correction of strabismus and entropion were obtained. Only mild, transient and local side-effects occurred. The patients were followed up for 4-12 weeks with no recurrence. The clinical results show that local injection of a minute dose of botulinum A toxin in treating blepharospasm, hemifacial spasm, strabismus and entropion is a safe, effective and simple method of nonsurgical therapy. (+info)
Coexistent blepharospasm and hemifacial spasm: overlapping pathophysiologic mechanism?
BACKGROUND/AIM: Blepharospasm (BEB) and hemifacial spasm (HFS) appear to be distinct disorders. Clinical characteristics of coexistent BEB and HFS have not been examined. The aim of this study was to determine the prevalence, clinical, and imaging features of coexistent BEB among a cohort of HFS patients and controls. RESULTS: Among 665 study subjects, nine (5.5%) of the 164 consecutive HFS patients had coexistent BEB, significantly higher than age and gender matched controls (0/501, 0%) without neurological diseases (p<0.0001). The mean age of the nine patients was 61.4 (SD 9.9) (range 51-72), consisting of 88.9% women, and 66.7% had left sided HFS, similar to HFS patients without BEB. Six (66.7%) reported BEB symptoms at a mean of 0.8 years after HFS onset, one before, and onset was undetermined in two patients. Advanced magnetic resonance imaging and angiography revealed neurovascular compression of the ipsilateral side of HFS, without any basal ganglia lesions. CONCLUSIONS: BEB occurred more frequently in HFS patients, suggesting changes in the brainstem blink reflex circuitry could play a modulatory role in certain at-risk individuals resulting in the coexistence of these movement disorders. (+info)