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)

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

Glutaric aciduria is a disorcer of lysine, tryptophan, and hydroxylysine metabolism characterized by intermittent metabolic acidemia, dystonia, athetosis and mental retardation. It is due to a recessively inherited deficiency of glutaryl-CoA dehydrogeanse, the enzyme(s) which catalyze the dehydrogenation of glutaryl-CoA to glutaconyl-CoA and decarboxylation of the latter to crotonyl-CoA. Abnormal quantities of glutaric, beta-hydroxyglutaric, and glutaconic acids are found in the urine of these patients. The nature of the movement disorder prompted study of the effects of the abnormally excreted metabolites on brain glutamate decarboxylase, an enzyme implicated in the pathogenesis of Huntington's chorea. Glutamate decarboxylase activity was examined in rat and rabbit brain acetone powders, stabilized with pyridoxal phosphate and glutathione. Glutarate, beta-hydroxyglutarate, and glutaconate were competitive inhibitors of this emzyme, Ki values being 1.3 X 10(-3) mol/l, 2.5 X 10(-4) mol/l, respectively. This inhibition may explain the neurological accompaniments of this syndrome.
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PMID:Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? 124 44

A variety of hyperkinetic movement disorders has been associated with the use of neuroleptics (dopamine receptor blocking drugs), but tardive tremor has not been previously documented. We describe five patients in whom tremor occurred after chronic treatment with neuroleptics, was aggravated by and persisted after neuroleptic withdrawal, and improved after treatment with the dopamine depleting drug tetrabenazine. This involuntary oscillatory movement, with a frequency range of 3-5 Hz, was most prominent during maintenance of a posture, but was also present at rest and during a goal-directed movement. The tremor was accompanied by other tardive movement disorders, including akathisia, chorea, dystonia, myoclonus, and stereotypy. There was no family history or other explanation for tremor in these patients. We suggest that this hitherto unreported movement disorder is best termed "tardive tremor."
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PMID:Tardive tremor. 134 52

Twenty patients with propionic acidemia were reviewed retrospectively. Two groups were identified: those who presented in the first week of life (11 patients) or after the neonatal period (9 patients). The early onset of disease had a much higher death rate (hazard ratio: 7.52) and all patients in this group were mentally retarded (IQ < or = 60). Movement disorder was common in both groups. Of the early-onset group, 3 patients had mild chorea or dystonia. Four in the late-onset group had a severe movement disorder. In the late onset group, cranial computed tomography disclosed transient basal ganglia lucencies following an episode of metabolic decompensation; however, no disturbance in amine neurotransmitter metabolite concentrations were found in the cerebrospinal fluid.
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PMID:Neurologic outcome of propionic acidemia. 141 75

The case of a young woman with focal dystonia of the hand due to a cavernous angioma of the basal ganglia is presented. The lesion involved the anterior third of the lentiform nucleus and a large portion of white matter anterior to this nucleus and lateral to the head of the caudate, as shown by magnetic resonance imaging; it was completely removed through a computed tomography-assisted stereotactic craniotomy by microsurgical technique, resulting in the cure of the patient. These facts support the pathophysiological hypothesis of a disruption of the striatopallidothalamic projection to the premotor cortex as the cause of symptomatic dystonia. A review of the reported cases of cavernous angiomas of the deep cerebral gray nuclei shows that this is the first case of cavernous angioma associated with movement disorder.
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PMID:Focal dystonia secondary to cavernous angioma of the basal ganglia: case report and review of the literature. 832 84

In a series of 225 patients with astrocytomas (grades I-IV) of the basal ganglia and the thalamus, 20 had a movement disorder. In all patients the histological diagnosis was verified by stereotactic biopsy. Tremor was observed in twelve patients, dystonia in eight, chorea in three, and chorea/ballismus and myoclonus in one. The tumour involved the thalamus in 16 patients. Corticospinal tract dysfunction was evident in 70% of the patients with movement disorders and in 73% of those without. Demographic, clinical, histological and neuroradiological data of the patients with a movement disorder were compared with the data of patients without. CT data yielded no differences with respect to the involvement of anatomical structures. Movement disorders were significantly associated with low-grade astrocytomas.
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PMID:Movement disorders in astrocytomas of the basal ganglia and the thalamus. 2264 3

The X chromosome-linked dystonia-parkinsonism syndrome (XDP) is a severe movement disorder, characterized by both dystonia and parkinsonism. XDP is a genetically homogeneous disorder. Known ancestry of all patients has been traced back to Panay, Philippines, where the disease probably originated from a single mutation (founder effect). The gene locus, DYT3, has been previously assigned to the proximal long arm of the X chromosome (Xq12-q21.1). Using four dinucleotide tandem repeat (DNTR) sequences from Xq13-derived yeast artificial chromosomes (YACs), we further delineate DYT3 within Xq13. Observation of a recombination event between DYT3 and DNTR locus 4548-7, derived from a YAC encompassing locus DXS56, establishes 4548-7 as a distal flanking marker. Assignment of DYT3 to a region in Xq13, flanked by loci 4548-7 and DXS159, is further supported by highly significant allelic association between DYT3 and a total of four DNTR loci--PY2-31, PY5-10, 4548-1, and 4548-7--located in a region defined by PGK1 and DXS56. /phi/ and /delta/ values were 0.82/0.35, 0.78/0.42, 0.65/0.34, and 0.88/0.58 for PY2-31, PY5-10, 4548-1, and 4548-7 at P less than 10(-2), P less than 10(-4), P less than 10(-3), and P less than 10(-6).
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PMID:Delineation of the dystonia-parkinsonism syndrome locus in Xq13. 151 53

The study of rare genetic forms of dystonia and parkinsonism permits positional cloning of genes potentially involved in more common, multifactorial forms of these diseases. One movement disorder amenable to molecular genetic analysis is the X-linked dystonia-parkinsonism syndrome (XDP). This disease is endemic to the Philippines where it originated by a genetic founder effect. Linkage analysis was performed with DNA from 14 XDP kindreds by using 12 polymorphic DNA sequences in Xp11-Xq22. Two-point analysis demonstrated maximum lod scores of 5.45, 4.95, 4.28, and 5.99 for DXS106, DXS159, PGK1, and DXS72, respectively, at recombination fractions of zero (DXS106 and DXS159), .01 (PGK1), and .04 (DXS72). Multipoint analysis resulted in a maximum-likelihood score (Zmax) of 8.41 with a (Zmax - 1) support interval of 9 cM between DXS159 and DXS72 (Xq12-q21.1). In 19 XDP kindreds significant linkage disequilibrium was found for loci DXS72 (delta = .47), PGK1 (delta = .36), DXS95 (delta = .30), DXS106 (delta = .28), and DXS159 (delta = .26). These data indicate that the gene mutated in XDP (locus DYT3) is located in Xq12-q21.1.
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PMID:Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. 155 Jan 25

Previous reports have attributed the development of premature cervical spondylosis to movement disorders such as torticollis and athetosis. This case report describes the clinical, electromyographic, and radiographic findings in a 34-year-old man who developed a myelopathy and cervical radiculopathy superimposed on a chronic dystonia of his neck and left arm. Cervical myeloradiculopathy should be suspected in any patient with a chronic movement disorder of the hand, neck, or arms, who presents with neurologic deterioration. Early diagnosis will lead to treatment that may improve symptoms. Anterior cervical bony fusion appears to be the preferred surgical treatment in these patients.
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PMID:Cervical spondylotic myeloradiculopathy in dystonia. 155 15

Baclofen benefits some patients with adult onset dystonia, but few reports document the response to baclofen of children with idiopathic dystonia. Sixteen of 80 patients less than age 21 years with idiopathic dystonia seen by the Movement Disorder Group at Columbia-Presbyterian Medical Center in New York were treated with baclofen. Five had substantial improvement in symptoms, two had moderate improvement, and nine failed to benefit. Three of the improved patients had transient improvement on high dose anticholinergics, but had sustained, dramatic improvement when baclofen was added. At last follow-up, five patients maintained improvement for a mean 3.8 years (19 months-8 years) on a mean 79 mg of baclofen (40-120 mg). Response to baclofen did not correlate with age at onset of dystonia or age at onset of therapy, but did correlate with duration of symptoms before therapy (3 years for those who improved vs 7.8 years for those who did not: p less than .002 by t-test). Baclofen can be an effective treatment for childhood dystonia.
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PMID:Baclofen in the treatment of idiopathic dystonia in children. 155 66


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