Blepharospasm and related facial movement disorders

The variable clinical features and the relatively good response of blepharospasm to botulinum-toxin type A are now well established. The etiology and pathophysiology of blepharospasm and related facial movement disorders are still poorly understood. Genetic and histopathologic studies over the last year have contributed to our understanding of this disease. The most significant progress has been made in the electromyographic studies of the the levator palpebrae and orbicularis oculi muscles. Subclassification based on the electromyographic abnormalities of these two muscles have begun to improve our understanding of the variable responses to botulinum-toxin type A. Further electromyographic studies may help identify the best sites of injection for optimal response and differentiate patients requiring limited or complete myectomy. The development of the limited myectomy has provided excellent functional and cosmetic results with quick recovery times in selected patients.     

Blepharospasm associated with olivopontocerebellar atrophy

We report two cases of cranial dystonia (blepharospasm) associated with olivopontocerebellar atrophy (OPCA). The pathophysiology of blepharospasm appears to involve an increased excitability of the interneurons of the blink and corneal reflexes. It is hypothesized that blepharospasm associated with OPCA might be due to rostral brainstem lesions disrupting central dopaminergic and cholinergic pathways, resulting in disinhibition of brainstem reflexes or denervation supersensitivity of the facial nuclear complex.     

Ocular movements in essential blepharospasm

In essential blepharospasm histopathologic and electrophysiologic evidence supports the existence of lesions in proximity to brainstem nuclei controlling ocular movements. We studied horizontal ocular movements in eight patients who had been treated previously with surgery or botulinum toxin injection to control essential blepharospasm (mean age, 58 years) and compared these with seven control subjects who did not have blepharospasm (mean age, 68 years). We examined fixation stability, saccades, the vestibulo-ocular reflex, visual enhancement and suppression of the vestibulo-ocular reflex, optokinetic nystagmus, and pursuit by using digitally sampled, direct current electro-oculography. Patients with blepharospasm exhibited no ocular movement abnormalities. Since quantitative aspects of ocular movements are sensitive to nonspecific brainstem lesions, the absence of abnormal ocular movements suggests that the lesion in blepharospasm is specifically limited to neurons regulating the facial muscles.     

Long-term results of treatment of idiopathic blepharospasm with botulinum toxin injections.

One hundred and one patients with idiopathic blepharospasm have been treated with injections of botulinum toxin A into the orbicularis oculi. Ten had previously had facial nerve avulsions and responded well, normal visual function being restored in the majority (7/10) for an average of 14 weeks. Without prior surgical treatment the response was more variable, but 71/91 regained normal or near normal vision. Older patients, those with a family history of the condition, and those without oromandibular dystonia responded slightly better. The severity of the blepharospasm, the length of the history, and spontaneous resolution of an episode of focal dystonia in the past had no influence on the outcome. Results were poor in the presence of an associated neurological disorder. Side effects, particularly a temporary partial ptosis, were common but were well tolerated. The average duration of improvement was eight weeks in men, nine in women, and there was no evidence of any increase in duration after multiple injections. Eighty nine patients continued with injections, 11 opted for surgical treatment, and one resumed drugs.     

Benign essential blepharospasm among residents of Olmsted County,Minnesota, 1976 to 1995: an epidemiologic study

PURPOSE: To describe the incidence, patient demographics, and response to treatment of benign essential blepharospasm (BEB) in a population-based cohort. METHODS: In this epidemiologic study, we searched the Rochester Epidemiology Project database for patients diagnosed with blepharospasm or related disorders between 1976 and 1995. The incident rate denominator was based on a linear interpolation of decennial census data from Olmsted County. The 95% confidence interval for the incidence rate was based on the Poisson distribution. RESULTS: Olmsted County residents (n = 295) were diagnosed with blepharospasm or related disorders between 1976 and 1995. Of these, 8 patients met the criteria for BEB. The calculated incidence rate of BEB is 1.2 persons per 100,000 population per year (95% CI, 0.37 to 2.02). At the time of BEB diagnosis, the median patient age was 61.5 years, and symptoms had been present for a median of 24 months. Four patients were men and 4 were women. Four of the 8 patients had Meige syndrome. Three of 4 patients treated with oral medications reported symptomatic improvement. Botulinum toxin injection was offered to all patients, but only 4 elected treatment. All who were treated with botulinum toxin had temporary symptomatic improvement. No patient underwent surgical treatment for BEB. Two patients had resolution of symptoms within the follow-up period. CONCLUSIONS: BEB is a rare disorder. In this small, population-based sample, women and men were affected with equal frequency, and half of patients had lower facial dystonia (Meige syndrome). Only half of patients with BEB elected botulinum toxin injections, and none required surgery. Disease remission occurred in 2 of 8 patients.     

眼轮匝肌痉挛的病因与治疗方法探讨

为探讨单侧眼轮匝肌痉挛的病因及治疗方法，对１８２例患者观察了临床症状、体征，进行了Ａ型肉毒杆菌毒素治疗；３６例作了肌电图检查，１５例作了脑干磁共振血管成像检查（ＭＲＡ）。结果：１８２例眼轮匝肌痉挛者在数月后１７６例扩展致同侧全部面肌，Ａ型肉毒毒素治疗有效率为９４％，半年后复发率为８６％；肌电图检查患侧均出现自发性动作电位；脑干ＭＲＡ检查１５例患者中，１４例出现血管变异。结论：眼轮匝肌痉挛的病因与脑干血管变异，压迫面神经根出脑干处有关；Ａ型肉毒毒素治疗有效率９４％，不失为一种较好的治疗方法     

Acquired blepharophimosis in a patient with juvenile blepharospasm

At 4 years of age, a young girl with Schwartz-Jampel syndrome developed blepharospasm with resultant blepharophimosis. Her eyelids and facial features had been normal until that time. While these rare ocular abnormalities may be present together in patients with this syndrome, the relationship between them has not been explained. We theorize that constant orbicularis squeezing in the pediatric age group retards full eyelid development and leads to acquired blepharophimosis.     

Disorders of facial motor function

This review deals with a variety of disorders of facial movement. Recent publications on blepharospasm, facial spasm, facial myokymia, apraxia of lid opening and facial paralysis are referenced and discussed. In blepharospasm, carefully performed electromyographic studies reveal a variety of abnormal patterns of contraction of the oribicularis oculi and the levator palpebrae muscles confirming the clinical impression that blepharospasm is not a homogeneous disease. Similar studies are furthering the understanding of apraxia of lid opening, which may involve sustained contraction of the orbicularis oculi with or without failure of levator palpebrae inhibition. In both conditions botulinum toxin A injected pretarsally appears to be the preferred treatment. Of interest with respect to apraxia of lid opening is that it may be the result of a failure to sustain eye opening as well as an inability to open the eyes voluntarily. Although the fact that bilateral facial spasm was found in only five of 702 patients with spasm suggests that it is infrequent, it is also possible that bilateral facial spasm may be underdiagnosed because of lack of awareness of its existence. Despite the continued enthusiasm of neurosurgeons for microvascular decompression, the preferred treatment for facial spasm continues to be botulinum toxin A injections. It appears that a lesion of the dorsolateral pontine postgenu portion of the facial nerve is responsible for the facial myokymia of patients with multiple sclerosis. Interest in the study of lid function has increased as a result of the advent of the search coil technique for recording lid movements. Recordings with this technique have proven useful in facial nerve palsy for monitoring the degree and course of recovery and as a means of judging the effectiveness of therapy.     

Review and update of involuntary facial movement disorders presenting in the ophthalmological setting

We review the existing literature on the involuntary facial movement disorders—benign essential blepharospasm, apraxia of eyelid opening, hemifacial spasm, and aberrant facial nerve regeneration. The etiology of idiopathic blepharospasm, a disorder of the central nervous system, and hemifacial spasm, a condition involving the facial nerve of the peripheral nervous system, is markedly different. We discuss established methods of managing patients and highlight new approaches.     

Botulinum A toxin injection. Failures in clinical practice and a biomechanical system for the study of toxin-induced paralysis

Botulinum A toxin injection has great utility in the treatment of essential blepharospasm and other facial spasm disorders. Several investigators have noted the failure of botulinum toxin injections to relieve lid spasm in occasional patients and a decrease in effectiveness or duration of effect following multiple injections in other patients. We reviewed the charts of 30 consecutive patients presenting for the evaluation or treatment of facial dystonia. Of 20 patients who had received multiple injections of botulinum toxin, 10 patients were felt to be treatment failures. A new biomechanical system was developed to investigate the duration and degree of paralysis induced in the gastrocnemius muscle of the rat. Animals were treated with four sequential injections at 6-week intervals to the same muscle, resulting in muscle atrophy and an increase in the duration and degree of muscle paralysis, contrary to clinical findings in humans. The review of patient data confirms that, for many patients, repeated injection of botulinum toxin results in a decrease in duration and degree of effect despite an increased toxin dose. An opposite effect was noted in our experimental model because of progressive muscle atrophy.     

A Comparison of Facial Muscle Squeezing versus Non-facial Muscle Squeezing on the Efficacy of BotulinumToxin-A Injections for the Treatment of Facial Dystonia

Background:This study was performed to address whether voluntary muscle squeezing post botulinum toxin-A treatment with increased neuronal activity translates into noticeable patient benefit in practice.

Methods: This was a prospective, consecutive, double crossover interventional study. Participants were receiving regular (3 monthly) botulinum toxin-A treatment for aberrant facial nerve regeneration (AFNR), benign essential blepharospasm (BEB) or hemifacial spasm (HFS). Twenty-six participants were recruited and these were randomised into two groups (A and B). Group A performed a program of intensive facial exercises for 5 minutes after their first and third treatment whereas after their second treatment, they were asked to rest in a seated position for 5 minutes, and instructed not to talk or perform any voluntary movements of their face. Conversely group B were only asked to perform squeezing exercises after their second treatment. Outcomes were evaluated objectively using video-recordings and subjectively by questionnaire and telephone interview of participants.

Results: Video-recording data was complete for 21 participants. There was a mean 40% reduction in the frequency of facial muscle spasms and a 33% lower severity score (video-recordings graded by 1 masked investigator) where intensive facial exercises were performed post-treatment. These findings did not reach statistical significance (Mann- Whitney two-tailed test; p = 0.367).

Conclusion: Although statistical significance was not achievable, this study suggested a possible trend towards an increased efficacy of botulinum toxin-A, with facial muscle squeezing post BTX treatment. Future studies with a larger number and a better defined subset of subjects may lead to statistical significance.     

Long-term treatment of involuntary facial spasms using botulinum toxin

Botulinum toxin, a powerful pre-synaptic neurotoxin produced by Clostridium botulinum, interferes with the release of acetylcholine from nerve terminals. Since September 1985, we have been using this toxin to treat altogether 62 patients with benign facial spasms. Most of the patients had been on drugs or psychotherapy, 2 had received alcohol injections, 2 had undergone surgery of the orbicular branch, and 2 electrocoagulation of the facial nerve. In essential blepharospasm the duration of the beneficial effect after each treatment with botulinum toxin was about 3 1/2 months. In patients with hemifacial spasm the response was clearly longer, nearly 5 months in most cases. The treatment gave the best and longest-lasting relief of symptoms in patients suffering from disturbing myokymia. Response was poorest in patients suffering from facial spasms who simultaneously had a severe psychiatric disease. The most frequent side effect was mild or moderate ptosis (22.6%). Some patients complained of dry eyes and a few cases displayed facial nerve paresis. Side effects caused by botulinum toxin injections are transient but so also, unfortunately, is the beneficial effect on facial spasms.     

Blepharospasm in Japan: A Clinical Observational Study From a Large Referral Hospital in Tokyo

Focal dystonia is regarded as a characteristic feature of blepharospasm. However, patients do not always present with motor symptoms. To clarify the clinical features of blepharospasm in Japan, we conducted a retrospective observational study involving a large population of patients from a single institution. Common symptoms included difficulty opening the eyes, photophobia, and ocular pain/irritation. Initial symptoms often occurred following the long-term use of psychotropics such as etizoram, benzodiazepines, and zolpidem (32% of patients). Our findings demonstrated that the clinical presentation of blepharospasm is heterogenous, and that understanding regarding sensory-dominant forms of the disease may be poor among practitioners in Japan.     

Facial muscle spasms: An Australian study

Purpose: A group of patients suffering from blepharospasm, hemifacial spasm and Meige's syndrome were surveyed to determine the delay from the onset of their condition until a correct diagnosis was reached, the attitudes of practitioners towards them and their condition, the effect of their condition on their lifestyle and the effects of different types of treatment on their conditions.
Methods: Questionnaires were offered to all patients with blepharospasm, hemifacial spasm and Meige's syndrome presenting to three ophthalmologists licensed to treat patients with botulinum toxin injections over a 12 month period.
Results: Patients consulted an average of 4.4 practitioners before a correct diagnosis was made and many waited a number of years before obtaining satisfactory treatment. Approximately two-thirds of all practitioners consulted were unaware of their condition. Ten per cent of patients reported a family history of similar conditions. Most patients received relief from their symptoms with treatment using injections of botulinum toxin. More than 55% of patients considered themselves to have psychological problems (usually relating to stress and trauma) that they associated with the onset of their condition.
Conclusions: Facial muscie dystonias are rare and patient experiences suggest that they are poorly appreciated in the medical community. From the time they first see a practitioner with symptoms of facial dystonia, patients typically wait 2 years and see four practitioners before a correct diagnosis is made. Stress may be a factor in the symptomatic onset of this condition. Many patients describe pain as part of the presenting symptomatology. Botulinum toxin seems to be effective in the management of facial spasm.     

Essential Blepharospasm

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.     

Use of botulinum toxin in the treatment of one hundred patients with facial dyskinesias

One hundred patients with involuntary eyelid and facial spasms resulting from essential blepharospasm, Meige syndrome, and hemifacial spasm continued to respond to repeated injections of botulinum toxin at expected time intervals during a 30-month period. This series of more than 372 injections done by one of us (JAM) supports the finding of earlier, smaller series that tolerance to the toxin does not develop. The drug had a greater duration of effect in patients with hemifacial spasm than in patients with blepharospasm; the duration of effect was 17.25 weeks in the former group and 12.6 weeks in the latter. Eighteen percent of patients required a higher than standard dose for a therapeutic response. Fourteen of 15 patients with lower facial spasms and one patient with torticollis had significant relief. Dry eye may be managed by titrating the lower lid dose.     

Effectiveness of botulinum toxin therapy for essential blepharospasm

The effectiveness of Botulinum toxin (Oculinum) therapy in 76 patients with the diagnosis of essential blepharospasm was analyzed. Botulinum offers relief to almost all patients suffering from essential blepharospasm, however, this relief is usually temporary. The response time for repeated treatments tended to be longer than the first treatment. Patients with mild blepharospasm responded significantly longer to Botulinum injection, than those with severe spasms. The response to Botulinum was not significantly different in patients with Meige syndrome than in patients with only essential blepharospasm. Patients previously treated surgically for essential blepharospasm did not respond differently than those patients with no previous surgical therapy. The authors believe that Botulinum toxin injection is an effective, although temporary, mode of therapy for the signs and symptoms of this focal dystonia. The authors recognize that there may be psychologic factors affecting the response.     

Surgical management of essential blepharospasm.

We have reviewed the surgical management of essential blepharospasm over the last 15 years, comparing the results from facial nerve avulsion with those from orbicularis muscle stripping. After facial nerve avulsion 50% of patients remained free of troublesome spasm for 15 months after surgery, but only 25% remained so for more than two years. Following orbicularis oculi myectomy 50% of patients were free of troublesome spasms for 30 months after surgery and 55% of patients had relief from spasm for more than two years. Secondary effects of the two procedures are compared and are found to be fewer after orbicularis myectomy. There were no major complications after either form of surgery. Botulinum toxin is the treatment of first choice for this condition. If this becomes ineffective or inconvenient, surgical treatment is warranted and should not be deferred for fear of severe side effects of treatment, since these are rare. Protractor myectomy gives longer relief from blepharospasm than facial nerve avulsion and has fewer complications. However, it is technically difficult, time consuming, and has greater peroperative morbidity. Facial nerve avulsion may therefore still have a role in selected patients.     

Five-Year Retrospective Review of Cases with Benign Essential Blepharospasm and Hemifacial Spasm Presenting in a Tertiary Eye Care Center in North India

Retrospective analysis of epidemiological and clinical characteristics of patients diagnosed with benign essential blepharospasm and hemifacial spasm who reported to the oculoplasty clinic of a tertiary eye care center in north India between January 2010 and April 2015 was carried out. Dry eye, as well as all the local factors that can cause blepharospasm or hemifacial spasm, was ruled out. Systemic evaluation was done to rule out any neurological disorder. A detailed history was taken to rule out any associated psychiatric disorders as well as use of any medication which could be responsible for dystonic movements. In every patient of hemifacial spasm, magnetic resonance imaging (MRI) of the brain was done for any facial nerve compression or tumor involving posterior fossa. Botulinum type A injections were given after assessing their requirements on the basis of guidelines given by Jankovic et al.     

Frontalis suspension in the treatment of essential blepharospasm unresponsive to botulinum-toxin therapy: long-term results

Thirty-one patients with essential blepharospasm or lid opening disorder of the levator-inhibiting type, unresponsive to treatment with botulinum toxin, underwent frontalis suspension. Twenty-eight patients received bilateral surgery (three patients with bilateral complaints of different severity were operated on the more affected side; these patients were not included in the statistical analysis). The mean age was 62.4 years±8.52 (range 42–80 years). The individual improvement of complaints was assessed by the patients using a percentage scale (0%=no improvement; 100%=no complaints). Objective and subjective improvement was achieved in 26 of 28 patients. The mean subjective improvement was 57.7%±31.4. In 23 cases an additional treatment with botulinum toxin was administered. During follow-up period (mean 22.1 months±11.6; range 5–40 months) the effect of surgery remained stable. There were no serious complications, in a 5 of 56 operated eyes suture granuloma had developed. Unlike other surgeries for treatment of blepharospasm (excision of the orbicularis muscle, resection of facial nerve branches) frontalis suspension can be considered as a minimally invasive, but very effective and (if desired) reversible procedure. Moreover, additional treatment with botulinum toxin can bring about further improvement.