Effect of treatment with botulinum toxin on neurogenic blepharospasm.
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Botulinum toxin type A creates temporary localised flaccid paralysis after injection into skeletal muscle. Thirty four patients with blepharospasm, of whom 28 also had the oromandibular dystonia syndrome, were treated with injections of botulinum toxin type A into the orbicularis oculi, and 28 showed functional improvement after the treatment. A high incidence of local side effects occurred, especially partial ptosis, which was well tolerated. There were no systemic side effects. The average period of relief was 2.5 months, increasing to 2.8 months after a second injection. Functional improvement was limited in patients with severe associated dystonia. (+info)
Brueghel's syndrome, report of a case with postmortem studies.
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A patient with Brueghel's syndrome is described, who died following a seven year history of oromandibular dystonia with blepharospasm. Postmortem examination of the central nervous system revealed no abnormalities. (+info)
Electromyography and recovery of the blink reflex in involuntary eyelid closure: a comparative study.
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Electromyographic (EMG) activity of orbicularis oculi and levator palpebrae muscles was recorded to study the origin of involuntary eyelid closure in 33 patients. The evoked blink reflex in all patients and in 23 controls was also studied. To examine the excitability of facial motoneurons and bulbar interneurons in individual patients and to compare the results with EMG findings, R1 and R2 recovery indices were calculated in all subjects, as the average of recovery values at 0.5, 0.3, and 0.21 second interstimulus intervals. Based on EMG patterns, the patients were divided into three subclasses: EMG subclass 1, 10 patients with involuntary discharges solely in orbicularis oculi muscle; EMG subclass 2, 20 patients with involuntary discharges in orbicularis oculi and either involuntary levator palpebrae inhibition or a disturbed reciprocal innervation between orbicularis oculi and levator palpebrae; EMG subclass 3, three patients who did not have blepharospasm, but had involuntary levator palpebrae inhibition in association with a basal ganglia disease. The total patient group showed an enhanced recovery of both R1 and R2 components compared with controls. Although 30 out of 33 patients had blepharospasm (EMG subclasses 1 and 2), R1 recovery index was normal in 64% and R2 recovery index was normal in 54%. Patients with an abnormal R2 recovery index had an abnormal R1 recovery index significantly more often. All patients from EMG subclass 1 had an abnormal R2 recovery index, whereas all patients from EMG subclass 3 had normal recovery indices for both R1 and R2 responses. Seventy five per cent of the patients from EMG subclass 2 had normal recovery indices. The results provide further evidence that physiologically blepharospasm is not a homogeneous disease entity, and indicate that different pathophysiological mechanisms at the suprasegmental, or segmental level, or both are involved. (+info)
Pretarsal application of botulinum toxin for treatment of blepharospasm.
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The response to botulinum toxin type A was compared after two injection techniques in 45 patients with blepharospasm. Initially, patients were treated according to a triple injection technique; two injections into the upper eyelid and one injection into the lower eyelid. Subsequently, without altering the dose, the same patient group received two further injections into the pretarsal portion of the orbicularis oculi muscle of the upper lid. Triple injections were given in 227 treatments, of which 81% were successful. Mean duration of benefit was 8.5 weeks. Additional pretarsal injections were given in 183 treatment sessions. The number of successful treatments significantly increased, to 95% (P < 0.001), and the mean duration of benefit increased to 12.5 weeks (P < 0.001). Ptosis occurred significantly less often after pretarsal injections (P < 0.01). Patients with combined blepharospasm and involuntary levator palpebrae inhibition responded better to the pretarsal injection technique. (+info)
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
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Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains 95% of the copper found in the plasma of vertebrate species. We report here on the identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum ceruloplasmin in association with late-onset retinal and basal ganglia degeneration. In this patient T2 (transverse relaxation time)-weighted magnetic resonance imaging of the brain revealed basal ganglia densities consistent with iron deposition, and liver biopsy confirmed the presence of excess iron. Although Southern blot analysis of the patient's DNA was normal, PCR amplification of 18 of the 19 exons composing the human ceruloplasmin gene revealed a distinct size difference in exon 7. DNA sequence analysis of this exon revealed a 5-bp insertion at amino acid 410, resulting in a frame-shift mutation and a truncated open reading frame. The validity of this mutation was confirmed by analysis of DNA from the patient's daughter, which revealed heterozygosity for this same 5-bp insertion. The presence of this mutation in conjunction with the clinical and pathologic findings demonstrates an essential role for ceruloplasmin in human biology and identifies aceruloplasminemia as an autosomal recessive disorder of iron metabolism. These findings support previous studies that identified ceruloplasmin as a ferroxidase and are remarkably consistent with recent studies on the essential role of a homologous copper oxidase in iron metabolism in yeast. The clinical and laboratory findings suggest that additional patients with movement disorders and nonclassical Wilson disease should be examined for ceruloplasmin gene mutations. (+info)
Cyclosporin protects the eyelid skin from injury after injection of doxorubicin.
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PURPOSE: The myotoxic drug doxorubicin can treat blepharospasm and hemifacial spasm permanently when injected directly into the eyelid of patients. One side effect of this treatment is the dose-related occurrence of injury to the skin overlying the injection site. The purpose of this study was to determine if injection of the immunosuppressive agent cyclosporin into rabbit eyelids before doxorubicin treatment could reduce the occurrence of injury to the overlying skin and to determine the effect of cyclosporin pretreatment on doxorubicin-induced muscle fiber loss. METHODS: Anesthetized rabbits received injections of varying doses of cyclosporin 20 minutes before injection of either 0.5, 1, or 2 mg doxorubicin. The rabbits were examined daily, and epithelial changes were recorded as to duration, time of onset, and healing. When the skin was completely healed, the animals were killed and eyelid tissue was prepared for morphometric determination of muscle fiber number. Acute inflammation was quantitatively assessed using an Evans blue assay. RESULTS: At specified doses, cyclosporin improved the doxorubicin chemomyectomy protocol in three ways. It delayed the onset of skin injury at the higher doses of doxorubicin, and it markedly decreased the duration of skin injury. At some doses, cyclosporin completely prevented the formation of epithelial defects. The combination, however, did not increase muscle loss compared to doxorubicin alone; in fact, it had a slightly myoprotective effect. A dose range for cyclosporin administration was determined that resulted in a quantitative and dose-dependent reduction in inflammation at the injection site. CONCLUSIONS: The injection of cyclosporin into the eyelids before doxorubicin treatment delayed the onset, reduced the duration, and limited the extent of development of eyelid skin injury. Perhaps by limiting cytokine release, cyclosporin decreased the inflammatory reaction compared to that seen with doxorubicin alone. This combination has the potential to improve patient acceptance of doxorubicin chemomyectomy for the treatment of blepharospasm and hemifacial spasm. (+info)
Botulinum toxin in the treatment of paralytic strabismus and essential blepharospasm.
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As an alternative to conventional medical and surgical modalities that have met little success in the treatment of paralytic strabismus and essential blepharospasm, we explored the use of botulinum toxin as a treatment of choice in these two disorders. We used botulinum toxin in three patients with paralytic strabismus and in nine patients with essential blepharospasm. In three patients with paralytic strabismus, the botulinum toxin was injected into the ipsilateral antagonist of the paralysed muscle. The preinjection deviations ranged from 18 to 60 prism diopters. Two of these three patients achieved orthotropia around the thirtieth day and thereafter maintained it. The third patient became orthotropic on the eighteenth day, but deviation recurred and therefore required another injection of toxin. In nine patients with essential blepharospasm, botulinum toxin was injected into the orbicularis oculi muscles. Both objective and subjective improvement occurred in all nine patients within seven days and the effect lasted 12 to 15 weeks. Further injection of the toxin produced extremely beneficial results. However, the only significant complication that we encountered in both groups of strabismus and blepharospasm was ptosis, which was usually partial and temporary. From our experience, we advocate the use of botulinum toxin in the treatment of essential blepharospasm. (+info)
Botulinum a toxin treatment of hemifacial spasm and blepharospasm.
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We studied the effects of botulinum A toxin in 101 patients with hemifacial spasm and 11 patients with blepharospasm in an open trial and double blind manner. All patients in the open trial and 6 patients in the double blind trial improved after the first injection of botulinum toxin. There was no improvement with placebo. The peak effect ranged from one to 6 days after injection and mean peak effect was 3.6 days in blepharospasm, and 4 days in hemifacial spasm. Of 144 treatments, 98.6% had excellent results, (below grade I). The duration of beneficial effect ranged 11 to 40 weeks (mean 16.5 weeks) in hemifacial spasm and 9 to 30 weeks (mean 14.2 weeks) in blepharospasm. Complications were encountered in 63.4% in hemifacial spasm and 72.7% in blepharospasm. The common side effects were dry eyes, mouth droop, ptosis and lid edema in order of frequency. These side effects were mild and resolved spontaneously in 1 to 3 weeks. Botulinum A toxin therapy is effective and convenient, and the treatment of choice for patients with hemifacial spasm and blepharospasm. (+info)