Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The results obtained in a retrospective study on clinical and pharmacological aspects of 41 patients suffering craniocervical dystonia (24 with blepharospasm, 17 with torticollis) and 11 with spasm are here presented. Mean age of symptoms onset was 57.4, 43.8 and 55.8 years old respectively; this variable was comparatively higher in females than in males with torticollis. The prevalence of blepharospasm and hemifacial spasm was higher in females. A 38.7% of patients suffering blepharospasm also presented oromandibular dystonia (Meige's syndrome). Other abnormal movements less frequently associated were cephalic tremor, postural hand tremor and larynx dystonia. In three cases with blepharospasm there was family history of Parkinson's disease and in two cases with torticollis there was family history of essential tremor. The mean age of onset was lower in patients with clonic torticollis and the evolution time of symptoms was longer than in those who presented the tonic type. Clonic torticollis were less frequently associated to pain. Trihexyphenidyl (anticholinergic) was the most efficient drug in craniocervical dystonia, and clonazepam in facial hemispasm. In general, as earliest the age of onset was, as better the therapeutical response was.
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PMID:[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients]. 176 88

Blepharospasm is a cranial dystonia characterized by forceful spasms of the orbicularis oculi muscle which may lead to functional blindness in approximately two-thirds of patients. Botulinum toxin injection is a simple procedure, very effective and with little morbidity. It is considered as the treatment of choice for patients with disabling blepharospasm.
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PMID:[Treatment with botulinum toxin in blepharospasm]. 180 34

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.3, 16.3, 7.6 and 8.7 weeks respectively. Adverse effects were local and transient. We concluded that botulinum A toxin is a safe and effective therapy for patients with focal dystonia and hemifacial spasm.
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PMID:[Focal dystonias and facial hemispasm: treatment with botulinum A toxin]. 180 35

Blepharospasm is a cranial dystonia characterized by forceful spasms of the orbicularis oculi muscle which may lead to functional blindness in approximately two-thirds of patients. Botulinum toxin injections is a simple procedure, very effective and with little morbidity. It is considered as the treatment of choice for patients with disabling blepharospasm.
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PMID:[Treatment with botulinum toxin in blepharospasm]. 181 Feb 7

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.3, 16.3, 7.6 and 8.7 weeks respectively. Adverse effects were local and transient. We concluded that botulinum A toxin is a safe and effective therapy for patients with focal dystonia and hemifacial spasm.
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PMID:[Focal dystonias and facial hemispasm: treatment with botulinum A toxin]. 181 Feb 8

We studied nine patients with motor and phonic tics and other features of Tourette's syndrome, who developed persistent dystonia in addition to their tics. All, except one, were males (mean age, 35.8 years; range, 8 to 59 years), and had onset of tics prior to age 18 years (mean age, 9 years; range, 1.5 to 17 years). None of the patients were treated with neuroleptic drugs prior to the onset of dystonia. Torticollis and blepharospasm were the most common forms of dystonia. Seven patients had a history of tics in first degree relatives. While these patients were seen in a specialized movement disorder clinic and may, therefore, represent a population with atypical and more severe symptoms, the high prevalence rate of dystonia (5.0% of all patients with Tourette's syndrome seen in the clinic) suggests that some patients with tics may have an increased risk for dystonia.
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PMID:The coexistence of tics and dystonia. 189 64

We examined 56 members of a large Norwegian family with hereditary essential myoclonus, affecting mainly the neck and upper parts of the body, and inherited in an autosomal-dominant pattern. We observed definite myoclonus in nine individuals, probable myoclonus in one, and possible myoclonus in one. There were two other living members who had a history compatible with myoclonus but who had developed a permanent remission, so we did not observe the movements, and two who had involuntary movements only with stress. Writing usually increased the myoclonus in the neck and trunk, but did not produce myoclonus in the arm used for writing. Having a conversation with an individual who was aware of being watched would also usually increase the myoclonus. Alcohol ameliorated the myoclonus in many, but not all, affected members. Activities such as walking and concentrating during reading would usually reduce the myoclonus. Three living members with definite myoclonus also had features of mild focal dystonia, either spasmodic torticollis or blepharospasm, indicating that focal dystonia may exist as part of the clinical spectrum in hereditary essential myoclonus. In addition to examining the members of the family, we videotaped them and obtained blood samples for molecular genetic analysis.
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PMID:Hereditary essential myoclonus in a large Norwegian family. 192 29

The clinical features and course of 14 patients with progressive supranuclear palsy (PSP) were analysed. PSP formed 2.3 percent of the parkinsonian population. Blepharospasm, hypersomnia, athetosis, action dystonia, action myoclonus and family history of dementia were the unusual features. Half of the patients had dementia at presentation. Drug therapy was uniformly disappointing. The mean duration from onset to death in 4 patients who died was 4.5 years. The histopathological features in a patient with the disease for one year and who died of acute myocardial infarction showed moderately severe changes characteristic of the disease.
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PMID:Progressive supranuclear palsy. Report of 14 cases with special reference to unusual features. 193 53

Essential blepharospasm and cranial dystonia are related focal dystonias of unknown aetiology. Blepharospasm induced by acute dopamine depletion in parkinsonism restricts saccade initiation possibly via the substantia nigra pars reticulata (SNpr). If essential blepharospasm and cranial dystonia similarly restrict saccades, then a selective, somatotopically arranged pathway such as the SNpr may be involved. To test this possibility memory-contingent and visually-guided saccades were measured in patients with essential blepharospasm and cranial dystonia. The latency of both forms of saccades was either significantly prolonged or excessively variable, while the accuracy and peak velocity of these fast eye movements were similar to age-matched control subjects. Essential blepharospasm and cranial dystonia alter the initiation of saccadic eye movements. Subcortical brain regions or pathways where eyelid, saccade and cranial/cervical motor control are somatotopically approximated, such as the SNpr, may be involved in blepharospasm.
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PMID:Memory-contingent saccades and the substantia nigra postulate for essential blepharospasm. 199 88

The clinical phenotype of X-linked recessive torsion dystonia was documented in 42 affected individuals from 21 families. In 7 families, there were 9 sibships (core families) with 2 or more affected individuals available for evaluation. The ages of the patients ranged from 29 to 79 years with a mean of 46.2 +/- 10.1 years; the mean age of onset of dystonia was 35.0 +/- 8.0 years with a range of 12 to 48 years; and the mean duration of illness was 11.1 +/- 7.9 years. First manifestations were noted in the lower extremities in 36%, the axial musculature in 29%, the upper extremities in 23%, and in the head in 12% of the cases. The majority of patients displayed gait abnormalities (90%), leg dystonia (79%), oromandibular dystonia (64%), neck dystonia (57%), blepharospasm (57%), and truncal dystonia (52%). The disease generalized in 90% of the cases within 1 to 11 years of onset (median duration, 5 years). Overall, the condition was disabling, but the Fahn-Marsden disability score did not correlate with age of onset, duration of illness, site of onset, rate of generalization, or presence of parkinsonism. Thirty-six percent of the cases displayed at least 1 of the following "parkinsonian symptoms": bradykinesia, tremor, rigidity, loss of postural reflexes and a shuffling gait. Parkinsonism was diagnosed as definite in 14%, probable in 2%, and possible in 19% of the cases. Given this high association of dystonia and parkinsonism, we propose to call the disorder X-linked dystonia-parkinsonism syndrome (XDP).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. 203 Jun 41


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