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)

Pheylalanine metabolism was studied in 56 children with various forms of hyperkinesias. It was found that in the development of slow and fast hyperkinesias a certain role belongs to dihydroxyphenylalanine (DOPA). It is probable, that in patients with Turett's syndrome the synthesis of DOPA is increased while in patients the excretion of phenylacetylglutamine was found to be disturbed: it was decreased in the patients with the fast and increased in the children with the slow hyperkinesias. Phenylalanine load led to a lowering of the DOPA level in the patients with Turett's syndrome; an intensification of the synthesis of phenylacetylglutamine and diminution of the intensity of hyperkinesias. L-glutamine load resulted in detoxication of the toxic phenylalanine metabolites which inhibited the DOPA synthesis, as well as in a short-time increase in the phenylacetylglutamine excretion and a moderation of tonic hyperkinesias that manifested by athetosis and dystonia. All this points out that in the development of various forms of hyperkinesias a certain role belongs to amino acid metabolites.
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PMID:[Pathogenesis of hyperkinesis in children]. 29 Dec 44

The cerebral pareses occurring in early childhood or produced subsequently by trauma or spontaneous cerebral haemorrhages, present a heterogenous symptomatic picture. In the forefront we find the spastic pareses associated with extra-pyramidal motor hyperkinesia (athetosis, dystonia, ballism). 36 C.P.-patients were surveyed from 1--4 years after operative intervention. It is shown that better results can be obtained when multilocular lesions during a single session in correspondence with the dominant group of symptoms are performed (thalamic and subthalamic target points of the extrapyramidal motor nuclei and dentate nucleus). The results are presented. Continuous physical therapy after the operation and a reasonable intellectual level are essential for improvement.
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PMID:Multilocular lesions in the therapy of cerebral palsy. 33

This review considers the evidence for possible involvement of central nervous system pacemaker neurons in several clinical disorders of movement. Two basic types of tremor are discussed from this point of view, i.e., 4--7/sec parkinsonian tremor, of possible thalamocortical origin, and 7--11/sec essential tremor of possible olivo-cerebellar origin. The importance of motor programs and abnormalities in their utilization are considered with reference to the loss of motor function in parkinsonism (? loss of motor programs), and the inappropriate release of such programs as a possible basis for the involuntary movements seen in other movement disorders, such as chorea, athetosis, dystonia, and hemiballismus. The possible role of pacemaker neurons controlling such programs is considered. Finally, the subject of locomotion and the pacemaker model of the spinal locomotor pattern generator for stepping are considered in relation to clinical disorders of gait. While critical evidence is lacking for pacemaker inovlvement in any of these disorders, their possible role is emphasized.
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PMID:Possible involvement of central pacemakers in clinical disorders of movement. 35 Jun 32

Intramuscular neutrolysis with phenol has been used for 10 years in the management of spasticity in children. Best results depend on fastidious technique and realistic use of the procedure. Sedation or anesthesia was used in all cases -- 5% phenol in water was used for all procedures. The main indications were spasticity which interfered with function, either actual or potential, or with care. Where uninhibited vestibular or tonic neck reflexes affect muscle tone, or there is dystonia or athetosis, the procedure is less effective than where spasticity alone is present. Duration of relief of spasticity ranged from 1 month to more than 2 years. About one half of the lower extremity muscle treated required tenotomy later. Generally training was required after the procedure to obtain improved function. A representative sample of muscles treated, repeat procedures, and later surgery is discussed. The procedure is recommended for use in the management of spasticity in children as a way of improving function and/or care.
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PMID:Intramuscular neurolysis for spasticity in children. 47 67

Bilateral cervical posterior rhizotomy of C1 through C4, C5 or C6 was performed in 16 patients affected by dystonia and athetosis resulting from infantile cerebral palsy. The majority showed decreased muscle spasms and athetoid movements, with some improvements in their posture and voluntary mobility. 5 patients suffered from uneven and irregular breathing associated with lethargy immediately postoperatively, and 4 also showed reduced diaphragmatic activity; all 4 of these patients developed pneumonia, transitory in 3, but fatal to the other. Urinary retention lasting for a maximum of 3 months occurred in 4 of the 5 patients. The authors suggest that the lesion of ascending reticular fibers in the cervical posterior roots could have been responsible for the observations.
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PMID:Bilateral cervical posterior rhizotomy: effects on dystonia and athetosis, on respiration and other autonomic functions. 66 10

Our objective has been to trace Joseph's disease to its geographic origins and to determine the spectrum of clinical manifestations. This goal we have achieved by documenting type I and II disease within the Joseph and Sousa families. The major neuropathologic findings are a progressive neuronal loss involving the striatum, nigra, dentate nucleus of the cerebellum, and lower motor neurons in the brainstem and spinal cord. The homozygote form of the disease produces type I disease with onset in early childhood of progressive dystonia, athetosis, and spasticity. Type I disease tends to have its onset by age 25 years in heterozygotes and lasts about 15 years on the average. Type II disease, which we consider the result of a single dose of the mutant gene, usually begins somewhat later and runs its course over a 20-year period. Type III disease documented in the Thomas family is the most benign. Its onset is often in the fifth decade, and it progresses slowly into the eighth decade. Patients may benefit from antiparkinson medication including dihydroxyphenylalanine and anticholinergic agents (e.g., amantadine). A molecular marker for the disease is being sought actively, and several interesting patterns have already been documented by means of patient fibroblast cultures and two-dimensional acrylamide gel protein separations. The mutant gene is clearly outside the HLA complex but may be linked to it. The only biochemical change noted thus far is a reduced CSF level of HVA that probably reflects the loss of dopamine-synthesizing neurons in the substantia nigra and is thus a secondary effect of disease. Although the disease is a very old one which we can trace back to the early 19th century on the island of Flores, it may be recurring de novo by new gene mutations at an unstable gene locus in a genetically vulnerable population. Now that the spectrum of clinical expression has been identified and the mode of inheritance established as an autosomal dominant wherever the disease has been found, it is believed that its true incidence will become more evident by virtue of better detection and that the true incidence will actually increase because of increased assimilation of affected persons into other ethnic groups.
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PMID:Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. 73 30

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

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

An isocentered system for functional stereotactic procedures with the Cosman-Roberts-Wells frame and a CT localizer that allows extrapolation of target data directly from the CT slice is presented. Based on anatomical landmarks and on the scaled corresponding transverse plates of the Schaltenbrand and Wahren atlas, we delineate the thalamic and cerebellar nuclei. Twenty three image-directed functional procedures were performed in one year on 18 patients (7 with Parkinson's disease, 4 with dystonia, 3 persons with essential tremor, 2 patients with choreo-athetosis and 2 with de-afferentiation pain). The 23 procedures included 19 thalamotomies, two dentatotomies and two stereotactic implantations of deep seated brain electrodes. Successful targeting was verified by intra-operative electrical stimulation and postoperative CT scan. Complete reduction of symptoms was observed in 4 persons with Parkinson's disease and in 2 patients with essential tremor with significant improvement observed in the rest of the patients with the exception of the individual with choreo-athetosis. There were no operation-related complications. The reported technique is safer and less distressing for patients than previous radiological procedures and it makes image-directed stereotactic functional neurosurgery available to many units with the CRW frame.
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PMID:Image-directed functional neurosurgery with the Cosman-Roberts-Wells stereotactic instrument. 179 61

Drug-induced and tardive movement disorders represent a large number of extrapyramidal disorders seen in neurologic practice. Iatrogenically induced, most commonly by neuroleptics, these disorders can be characterized by any abnormal body movement including tremor, chorea, athetosis, dyskinesias, dystonia, myoclonus, tics, ballismus or akathisia. Parkinsonism, dyskinesias and dystonia tend to be the most common. Management of patients with drug-induced or tardive syndromes is complex. Prognosis is frequently poor as patients usually need the offending agent to manage their underlying psychiatric or medical problem. Neuroleptics and other drugs known commonly to cause movement disorders should be used cautiously and significant consideration of all risks and benefits measured before initiating therapy.
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PMID:Drug-induced and tardive movement disorders. 183 84


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