Gene/Protein Disease Symptom Drug Enzyme Compound
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A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
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PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

Motor points (areas of maximal sensitivity to electrical stimulation) were found in constant locations over orbicularis oculi when measured in both eyes of six normal subjects. All subjects had a motor point at the lateral terminus of the upper lid crease and the medial extent of the lower lid crease. A study of the innervation zone [distribution of neuromuscular junctions (NMJ)] was conducted on strips of pretarsal and preseptal portions of the upper eyelid orbicularis that had been removed routinely during involutional ptosis surgery. There was no significant difference in NMJ concentration between the medial and lateral sections, as determined by cholinesterase staining. Therefore, we concluded that the innervation zone is diffuse for the orbicularis muscle within this portion of the upper eyelid. Single-point injections of botulinum toxin were then compared to the conventional multiple injection sites on separate eyes in 10 patients with benign essential blepharospasm. Eight of the 10 patients reported greater relief on the side given injections into multiple points; the other two patients experienced no difference between the two methods. Both histologic data and clinical observation of response to botulinum toxin injection suggest the innervation zone for the upper orbicularis is diffuse. Thus, we conclude that multiple injections are superior to the injection of a single motor point.
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PMID:Innervation zone of orbicularis oculi muscle and implications for botulinum A toxin therapy. 170 72

34 patients with focal dystonias (13 with essential blepharospasm, 3 with Meige's syndrome, 2 with hemifacial spasm, 16 with spasmodic torticollis) were treated with botulinum type A toxin. 4 ng of botulinum type A toxin per eye were applied in the M. orbicularis oculi as first injection in the 18 patients without spasmodic torticollis. The 16 patients with idiopathic spasmodic torticollis received 10 ng botulinum toxin A in the contralateral M. sternocleidomastoideus as well as in the ipsilateral M. splenius capitis as first injection. The effect was monitored for a time period of at least 6 weeks by two subjective rating scores, a visual functional score and a global clinical impression score. Patients with blepharospasm showed a distinct improvement already after 4 days which lasted for 6 weeks. 75% of the patients with spasmodic torticollis experienced a moderate to distinct improvement after 4 days which remained stable for 6 weeks. A second injection was performed in 15 (7 blepharospasm, 8 spasmodic torticollis) patients 9-11 weeks later with a similar success. All observed side effects (weakness; stiffness of local muscles; feeling of dryness of eyes, unilateral ptosis) were mild and of transient nature. We suggest therefore botulinum type A toxin as treatment of first choice in focal dystonias.
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PMID:[Botulinum toxin A in therapy of craniocervical dystonias and hemifacial spasm]. 179 25

We present our experience (at the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia) with the management of the trachomatous eyelid disease. Four major eyelid complications: cicatricial entropion, eyelid retraction, secondary blepharospasm and brow ptosis, are described and their management outlined. Nine hundred sixty patients with cicatricial entropion are presented with thorough discussion of the surgical procedures and results. The surgical management of eyelid retraction, blepharospasm and brow ptosis is geared to provide the ophthalmologist with a complete overview of the disease pattern.
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PMID:Eyelid complications in trachoma: diagnosis and management. 187 38

Patients with hemifacial spasm (N = 25), blepharospasm (n = 8), and benign eyelid fasciculation (n = 2) were treated with botulinum toxin injections (PHLS, Porton Down, England). All patients reported substantial symptomatic relief. Marked improvement was seen in fifteen patients with hemifacial spasm and six patients with blepharospasm. Benign eyelid fasciculation was completely abolished. Beneficial effects was evident two to three days after injections, became maximum at one week, and remained effective for up to six months. Side effects were transitory and mild. They included periorbital edema, mild diplopia, ptosis and facial weakness. Only in two patients was ptosis unacceptable. Severity of side effects was dose-related. Reinjections had similar efficacy. Botulinum toxin therapy is a safe and effective treatment for these facial dyskinesias and should be considered a viable alternative to surgical procedures.
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PMID:Botulinum toxin in the treatment of facial dyskinesias. 188 80

Botulinum A exotoxin was recently approved for use in Canada. We describe the efficacy of botulinum toxin in the management of 235 patients with blepharospasm (mean age 64.3 years) and 130 patients with hemifacial spasm (mean age 60.4 years) treated at three Canadian ophthalmologic centres between 1984 and 1989. A total of 98% of the patients with blepharospasm and 100% of the patients with hemifacial spasm had significant relief of their symptoms; however, 11% of the former and 2% of the latter did not respond to the usual starting concentrations of the drug and needed stronger dosages for relief. The duration of relief varied widely in both groups. Up to 7% of patients had ineffective treatments but responded to subsequent injections. Analysis of variance and linear trend statistics showed that there were no changes in the mean duration of relief over the first several treatments for individual patients in either group. Side effects were transient and included ptosis, exposure keratitis, epiphora and strabismus.
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PMID:Treatment of blepharospasm and hemifacial spasm with botulinum A toxin: a Canadian multicentre study. 205 23

Ptosis occurs in a variety of disorders including myasthenia gravis, oculomotor palsy, Horner's syndrome and brain stem disorders. There are also supranuclear lesions causing blepharoptosis. The latter disorders are reflex blepharospasm, apraxia of eyelid opening and Meige's syndrome. Since the total number of bilateral ptosis associated with cerebral hemispheric lesions is very few, whether the responsible lesions are located in the nondominant hemisphere or bilateral hemispheres are still controversial. We report here a case of bilateral cerebral ptosis that occurred in association with cerebral infarction of the nondominant hemisphere.
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PMID:A case of bilateral ptosis associated with cerebral hemispheric lesions. 207 18

Botulinum A toxin was injected into the affected muscles in 20 patients with blepharospasm, 8 with torticollis and 12 with hemifacial spasm. In all cases blepharospasm and hemifacial spasm was abolished or markedly reduced. The only side effect was transient ptosis and diplopia. Patients with torticollis had a mild to moderate improvement of the dystonic posture and pain; dysphagia was the most troublesome side effect. Botulinum A toxin is an effective therapy in patients with focal dystonia and spasms.
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PMID:Botulinum A toxin injection in patients with blepharospasm, torticollis and hemifacial spasm. 208 84

Blepharospasm is a relatively frequent cranial dystonia which may be seen either alone or related to orofacial-mandibular dystonia (Meige's syndrome). In its maximum degree it can cause functional blindness.Twelve patients with blepharospasm (4 essential and 8 Meige's syndrome) who had been previously treated unsuccessfully with drugs (trihexyphenidyl, biperiden, carbamazepine, lithium, baclofen, lisuride, imipramine, clonazepam and butyrophenones) were treated for 12 months with periocular injections of botulinum toxin (BOTOX). A "low" dose of 12,5 U per eye was employed. With this dose, eleven out of twelve patients experienced significant improvement which lasted from five to fifteen weeks. The only nonresponder obtained complete relief upon duplicating the dose. The only side effect was uni or bilateral ptosis in six patients which improved completely in seven to twenty one days. One patient developed a peripheral facial palsy with complete remission in nineteen days. No systemic side effects were noted. There was only one desertion from this study due to depression enhanced by prolonged (21 days) ptosis. All patients (including the deserter) agreed that treatment with BOTOX provided more relief than any other previous therapeutic method. Our results confirm those obtained by others but a more prolonged study is needed to better evaluate long term effects.
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PMID:[Treatment of blepharospasm with botulinum toxin]. 210 46

The authors use injections of botulinum A toxin in treatment of facial spasms. 105 patients (70 patients with blepharospasm, 35 patients with hemispasm) were treated during 4 years. The toxin Wisconsin relieved spasms for an average of 10 weeks. Local complications such as ptosis and diplopia appeared in less than 1/5 of the cases. No general complications were observed. Repeated treatments are necessary. The authors noted a decrease of lacrimal secretion on the treated side in hemifacial spasm and concluded that botulinum A toxin injections could be used as a treatment of epiphora.
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PMID:[Treatment of facial spasm with botulin A toxin]. 225 49


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