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 five-year-old girl developed an acute encephalopathy after eating a piece of moldy sugarcane. Delayed symptomatic dystonia was the main effect; cranial CT scans revealed bilateral lenticular lucencies. This case is typical of moldy sugarcane poisoning cases previously reported only in China. 3-Nitropropionic acid produced by Arthrinium sp is the most likely etiologic agent.
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PMID:Moldy sugarcane poisoning--a case report with a brief review. 762 5

We report eight patients who had a progressive illness dominated by generalised dystonia and who had clinical and imaging features suggestive of Leigh's syndrome (LS). Six of the eight cases were male. Early development was usually normal but three cases exhibited impaired mental and/or motor development, and three others had a history of an earlier unexplained encephalopathy or febrile illness. The onset of the dystonia occurred at a mean age of 3 years (range 2 months-7 years). All had abnormalities in the basal ganglia on brain imaging; symmetrical bilateral lucencies or calcification were seen in the basal ganglia on computed tomography scan in five cases, and high signal lesions were evident in these regions on T2-weighted magnetic resonance imaging sequences in seven cases. Other causes of such changes in the basal ganglia were excluded by appropriate investigations. Raised blood lactate levels were found in four of the eight patients. Muscle biopsies were done in seven patients but histology and histochemistry were normal. The common mitochondrial DNA mutations associated with LS in mitochondrial encephalopathies were not found in the six cases examined. LS presenting as a pure dystonic syndrome is uncommon, but should be considered in the differential diagnosis of symptomatic dystonia presenting in childhood.
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PMID:Dystonia as the major manifestation of Leigh's syndrome. 784 5

Parkinsonism is an uncommon movement disorder in childhood. Six unusual cases of acquired parkinsonism in hospitalized children are described. Clinical manifestations included an akinetic-rigid syndrome with and without tremor, the combination of parkinsonism and dystonia, and a parkinsonism-plus syndrome. Altered mental status, mutism, dysphagia, and sialorrhea were frequent associations. Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without neuroleptic malignant syndrome; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with hydrocephalus. Cranial magnetic resonance imaging results ranged from normal to profound cerebral and cerebellar atrophy with chemotherapeutic toxicity. The illnesses usually were severe enough to require pharmacotherapy. Incorrect diagnoses of depression or catatonia delayed treatment or aggravated the problem. Acute treatment included amantadine, levodopa/carbidopa with or without selegiline, diphenhydramine, or benztropine. The concentration of CSF homovanillic acid was normal in a neuroleptic-associated patient, but the level was low in an encephalitic patient. All patients demonstrated dramatic improvement, including two who were not treated; some had complete resolution of symptoms and none required continued antiparkinsonian drugs despite poor scores on the Unified Parkinson's Disease Rating Scale and the Modified Hoehn and Yahr Rating Scales. The causes of parkinsonism described are more common in a general pediatric hospital than the parkinsonism associated with the popularized Segawa syndrome.
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PMID:Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. 802 61

The authors analyze some pathophysiologic mechanisms underlying the relationships between the vegetative dystonia syndrome running in the presence of the climacteric syndrome, on the one hand, and cerebrovascular insufficiency, on the other. A total of 82 women were examined, 62 of these with the climacteric syndrome and 20 with the normal climacteric (reference group). Among women with the climacteric syndrome patients with signs of cerebrovascular insufficiency (initial signs of cerebral circulation insufficiency and Stage I dyscirculatory encephalopathy) predominated. The severity of cerebrovascular insufficiency was higher in patients with the climacteric syndrome. The sympathetic tone of the autonomic nervous system clearly prevailed in the test group, and signs of inadequate autonomic supply were present. Electropolygraphic registration of the function of the nonspecific systems of the brain has shown marked signs of increased level of the ascending nonspecific activation of the brain in the main group as against the reference one. Basing on these findings, the authors analyze the specific features of the psychovegetative syndrome, conducive to the development of cerebrovascular dystonia in women with the pathologic course of the climacteric.
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PMID:[The autonomic dystonia syndrome in pathological climacteric in women and cerebrovascular insufficiency]. 804 81

Neurological, psychiatric, somatic and immune status were studied in 256 patients subjected to ionizing radiation at the dose of 10-45 cGy during liquidation of aftermath of the Chernobyl accident. In 61% of them neurocirculatory dystonia was found, 39% of patients revealed dyscirculatory encephalopathy. Alongside with dystonic disorders structural changes of vessels were detected. Asthenoneurosis diagnosed in 97% of patients was recognized as a key syndrome in 53%, while in 23%--obsessional-phobic syndrome dominated, in 7%--depressive syndrome and in 14%--psycho-organic syndrome were at the foreground. Somatic status in most patients (67%) was burdened by diseases of digestive tract. 191 patients revealed considerable immune imbalance. In 95 patients (33%) it was less pronounced and consisted in moderate decrease of TPR/TPS ratio. Degrees of immune and neurological disorders correlated closely. The conclusion was made that low-dose radiation induces primary damage of immunity and vessels with secondary nervous system involvement. That is why connection between neurological symptoms and radiation in subjects who took part in liquidation of Chernobyl accident aftermath may be considered probable only in association with immune and circulatory disorders.
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PMID:[Nervous disorders in those engaged in the cleanup of the accident at the Chernobyl Atomic Electric Power Station subjected to ionizing radiation exposure at low doses]. 807 65

We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia. Elevation of lactate in the cerebrospinal fluid and high fumarate excretion in the urine led us to investigate the activities of the respiratory chain and of the Krebs cycle, and to finally identify fumarase deficiency in these two children. The deficiency was profound and present in all tissues investigated, affecting the cytosolic and the mitochondrial fumarase isoenzymes to the same degree. Analysis of fumarase cDNA demonstrated that both patients were homozygous for a missense mutation, a G-955-->C transversion, predicting a Glu-319-->Gln substitution. This substitution occurred in a highly conserved region of the fumarase cDNA. Both parents exhibited half the expected fumarase activity in their lymphocytes and were found to be heterozygous for this substitution. The present study is to our knowledge the first molecular characterization of tricarboxylic acid deficiency, a rare inherited inborn error of metabolism in childhood.
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PMID:Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 820 Sep 87

Epidemics of neurotoxic disease in developing regions of the world are often associated with dietary dependence on plant components with inherent toxic potential or which have spoiled and become contaminated with mycotoxins. Diseases triggered by plant toxins include lathyrism and cassavism, types of irreversible spastic parapareses associated with staple diets of grass pea and bitter cassava root, respectively. Mildewed sugarcane poisoning, an encephalopathy and tardive dystonia, illustrates the neurotoxic effects of a widely distributed plant and fungal toxin. Food and medicinal use of the neurotoxic cycad plant is thought to have a role in the etiology of western Pacific amyotrophic lateral sclerosis and parkinsonism-dementia. Plant-associated neurotoxicity is a significant and preventable cause of morbidity in certain regions of Africa, Asia, and Oceania.
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PMID:Neurologic diseases associated with use of plant components with toxic potential. 832 56

Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1. Dystonia was most commonly multifocal at onset and showed progression in six patients. In half of the cases an enzymatic defect was detected, most commonly cytochrome C oxidase. The neuroradiologic findings showed prominent basal ganglia lesions in 20/21 patients. Putamen, caudate, substantia nigra and globus pallidus were involved in this order of frequency. This experience was reflected in a literature review encompassing 284 cases of LS. However, only 26.4% had MD. Eleven patients, including one of our cases, presented as the primary torsion dystonia phenotype. There are clinical and pathological similarities between LS and other metabolic diseases affecting the central nervous system. The enhanced vulnerability of the nervous system to metabolic stress and the resemblance in the distribution of the pathology of these diverse conditions suggests a common pathogenetic mechanism. An excitotoxin-mediated mechanism is favored, one which might account for the frequent involvement of the basal ganglia in LS.
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PMID:Disorders of movement in Leigh syndrome. 839 42

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

To test the efficacy of intrathecal baclofen in various movement disorders, 18 patients with dystonia, head trauma, cerebral palsy, rigidity, or painful spasms underwent a trial of intrathecal baclofen. Ten went on to permanent implantation with an infusion pump to provide long-term treatment. Patients with a component of spasticity, painful spasms, or focal dystonias did best, and no response was seen in patients with rigidity due to anoxic encephalopathy. A videotape of responses is provided.
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PMID:Intrathecal baclofen for motor disorders. 855 24


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