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)

A group of four monkeys was rendered parkinsonian with the toxin MPTP. They were then treated chronically with L-DOPA/benserazide 50/12.5 mg/kg given orally daily for 2 months. This dose produced a striking antiparkinsonian effect, but all animals manifested dyskinesia. A series of agents acting primarily on neurotransmitters other than dopamine were then tested in combination with L-DOPA to see if the dyskinetic movements would be modified. Several drugs, including clonidine, physostigmine, methysergide, 5-MDOT, propranolol, and MK-801, markedly reduced the dyskinetic movements but at the cost of a return of parkinsonian symptomatology. However, yohimbine and meperidine reduced predominantly the dyskinetic movements. Baclofen was also useful in one monkey against a more dystonic form of dyskinesia. Atropine converted the dystonic movements into chorea.
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PMID:Effect of nondopaminergic drugs on L-dopa-induced dyskinesias in MPTP-treated monkeys. 810 50

Cerebellar hypoplasia is common to a variety of congenital disorders. Both stable conditions and progressive (degenerative) disorders may cause cerebellar hypoplasia. Pontocerebellar hypoplasia (PCH) is distinct from cerebellar hypoplasias in general, because the ventral pons is affected. Reviewing both clinical and neuropathological evidence, two specific neurogenetic entities are delineated. It is proposed to call these, respectively, type 1 (PCH-1) and type 2 (PCH-2). In type 1 the hallmark is the presence of spinal anterior horn degeneration similar to Werdnig-Hoffmann disease. Presentation in the neonatal period is characterized by respiratory insufficiency, frequent congenital contractures, and a combination of central and peripheral motor signs. Patients die early, usually before 1 year of age. In type 2 the hallmark is the presence of chorea/dystonia, which is often severe, while spinal anterior horn pathology is absent. Patients have microcephaly and severely impaired mental and motor development. They frequently die during childhood. Neuronal degeneration in both types of PCH is non-specific. Reactive changes in the degenerated parts appear more extensive in type 1. Examples of both types are given. Differentiation of the two types appears straightforward and possible by clinical means. Carbohydrate-deficient glycoprotein syndrome, one other cause of (ponto)cerebellar hypoplasia, should be excluded in all cases of PCH by appropriate means.
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PMID:Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 814 99

Forty-one patients with Parkinson's disease and severe dyskinesias were analyzed retrospectively to determine if some general principles would emerge to aid physicians handling this complication of treatment. Dyskinesia type (high dopa chorea [HDC], low dopa chorea [LDC], high dopa dystonia [HDD], and low dopa dystonia [LDD]) predicted response to treatment and whether or not levodopa dose reduction would benefit dyskinesias without producing unacceptable "offs." High dopa chorea improved best but at the expense of increased "off" time, followed by LDD, HDD, and LDC. Levodopa reduction was an acceptable strategy in ameliorating HDC and LDD only. Adjunctive therapy benefited all dyskinesia types, although the majority of patients (12/17) helped by selegiline had LDD or LDC. Generally, low doses of dopamine agonists were helpful (bromocriptine < 20 mg/day; pergolide < 2 mg/day). When adding adjunctive therapy (except for selegiline or controlled-release carbidopa/levodopa), concomitant reduction in daily dose of levodopa was not an effective strategy to decrease dyskinesias. Serial trials of multiple drug regimens are useful in these patients.
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PMID:An analysis of treatment options and outcome in patients with Parkinson's disease and severe dyskinesias. 814 65

We report four patients with Parkinson's disease who had an unusual pattern of severe chorea and dystonia in the evenings only. The temporal pattern of abnormal movements and simultaneous monitoring of plasma levodopa and clinical state were consistent with dyskinesias associated with subtherapeutic (low dopa dyskinesias) rather than peak concentrations of levodopa (high dopa dyskinesias). In two patients, addition of a direct-acting dopamine receptor agonist was helpful in ameliorating this complication of antiparkinson therapy.
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PMID:Severe evening dyskinesias in advanced Parkinson's disease: clinical description, relation to plasma levodopa, and treatment. 819 78

Dystonia is a persistent attitude or posture in one or other of the extremes of athetoid movement. It may take the form of an over-extension or over-flexion of the hand, torsion of the spine, with arching and twisting of the back or forceful closure of the eyes and a fixed grimace. Dystonia is classified into idiopathic and symptomatic dystonia. Idiopathic dystonia is further divided into generalized, focal and segmental dystonia. Generalized dystonia covers classical torsion dystonia, paradoxical dystonia, myoclonic dystonia, dystonia with diurnal variation and Dopa-responsive dystonia. Dystonic tic, paroxysmal dystonia and hypnotic dystonia show a dystonic posture, although they are also accompanied by various other involuntary movements such as athetosis or chorea. Torticollis, writer's cramp or blepharospasm is assigned to the focal dystonia and Meige syndrome to the segmental dystonia. Symptomatic dystonia is observed in various neurological disorders, including cerebrovascular diseases, Parkinson's disease and Wilson's disease.
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PMID:[Dystonia]. 827 58

Athetosis is a peculiar involuntary movement resulting from pathologic involvement of the basal ganglia. Although mechanism of this movement is still far from established, athetosis is clinically differentiated from chorea and dystonia. The purpose of this article is to review and summarise the classification of this involuntary movement disorder. This movement disorder is classified into double athetosis, chorea-athetosis, unilateral athetosis and pseudo-athetosis. The double athetosis is featured by increased muscle tonus and irregular small amplitude movement, which appears the most frequently in patients of cerebral palsy. In chorea-athetosis, irregular abnormal movement is more prominent and larger than double athetosis. This type of movement appears commonly in patients other than cerebral palsy. Unilateral and pseudo-athetosis are derived not from disturbance of the basal ganglia but from impared sensory pathways of the deep sensation due to cerebro-vascular lesion. Stereotactic VL-thalamotomy is effective to relieve increased muscle tonus but not to decrease involuntary movement.
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PMID:[Athetosis]. 827 61

Involuntary movements caused by disorders in the central nervous system are peculiar, purposeless movements whose characteristics have been elaborately described in the literature of clinical neurology, although their neural mechanism has not yet been fully clarified. As involuntary movement is the result of abnormal contraction of the skeletal muscles, simultaneous recording from many muscles or muscle groups with different functions furnishes information on characteristic patterns of involuntary movements based on physiological features and provides us with a tool for differential diagnosis and for evaluation of the degree of disorder. For these purposes concurrent examination of muscle tone and of voluntary contraction is desirable. In this article, quantitation of movement and strength by EMG recorded with surface electrodes, characteristic patterns of EMG in various involuntary movements including tremor, chorea, ballism and dystonia were described.
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PMID:[EMG for study of involuntary movements]. 827 64

A variety of inheritable metabolic disorders produce movement disorders. A lists of conditions associated with tremor, athetosis, chorea, dystonia and myoclonus are presented as a guide for the differential diagnosis of such abnormal involuntary movements. The list includes aminoacidopathies, lipidoses, mucopolysaccharidoses, mucolipidoses, organic acidemias, mitochondrial cytopathies and disorders of carbohydrate, purine, and metal metabolism. Clinical, pathological and biochemical features of movement disorders of three typical examples, Wilson's disease, Lesch-Nyhan syndrome and glutaric acidemia type 1, are described.
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PMID:[Movement disorders in miscellaneous disorders--inherited metabolic diseases]. 827 72

Neuroacanthocytosis is a syndrome characterized by extrapyramidal neurologic manifestations such as chorea, dystonia, parkinsonism or tics and acanthocytosis in the blood smear. It is often associated with self aggression (lips and tongue bites) and arreflectic amyotrophy of the extremities. Three adult patients with the characteristic neurologic manifestations of the syndrome, acanthocytosis in the blood smear and normal plasma lipoproteins are presented. Kell antigen was negative in all the patients. Two patients presented as a Gilles de la Tourette syndrome and one as a familiar Chorea. The diagnosis must be suspected in adult patients with extrapyramidal manifestations and in whom the blood smear shows the presence of acanthocytosis. This is the first report of neuroacathocytosis in Chile and the second in a group of patients of hispanic origin.
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PMID:[Neuroacanthocytosis: report of 3 cases]. 830 15

Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers. Fluorodopa PET was performed on the man and one of the women. The man had moderately severe parkinsonism and dystonia. A 61-year-old female first cousin had mild left-sided dystonia and her 54-year-old sister had mild generalized chorea. Genetic typing data revealed that all three inherited an X chromosome with marker alleles strongly associated with lubag. Cytologic analysis did not reveal evidence of X chromosomal deletion. Fluorodopa PET in both the man and one affected cousin revealed reduced striatal uptake rate constants consistent with nigrostriatal involvement. These observations suggest that lubag may be a codominant disorder and that it is possible for women to be affected.
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PMID:Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. 835 Oct 10


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