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 case, diagnosed as 18p-syndrome by typical clinical appearance and by chromosomal analysis, presented with multiple nervous system defects consisting of bilateral pyramidal tract signs, weakness and focal dystonia of the lower extremities, and concentric visual field defect. Chromosomal analysis revealed karyotype 46, X, dic (Y;18) (p11;p11), inv(9) (p11q13), and the points of chromosomal breakages were thought to be in the short arm of chromosome 18 and in the short arm of Y chromosome. 18p-syndrome is caused by a chromosomal deletion, and presents with a wide variety of clinical appearances. Many cases have been reported since the original descriptions by de Grouchy in 1963, though with few mentions of neurological deficits other than mental retardation. Furthermore, there have been no reports of pyramidal tract signs, weakness and focal dystonia of the lower extremities, or visual field defect, without recognizable anatomical abnormalities. Our case of 18p-syndrome is quite rare because of multiple nervous system abnormalities mentioned above, not accompanied by malformations of the central nervous system.
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PMID:[18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect]. 792 61

Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, -21, who developed childhood onset cervical dystonia.
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PMID:Dystonia in a patient with ring chromosome 21. 1467 98

Children with acute encephalopathy (AEP) or acute encephalitis(AE) show variable findings in the clinical manifestations and on the neuroimaging. Patients with AE present variable symptoms: disturbance of consciousness, seizure, ataxia, dystonia, abnormal behavior, apnea, and others. This variability depends on the location of lesions including basal ganglia, brain stem, cerebellum, or cerebral gray/white matter. In AEP, MRI findings can be categorized into (1) severe brain edema, (2) acute necrotizing encephalopathy, (3) cortical necrosis that appears 4-5 days after the onset, and (4) others. Serum AST elevates in approximately 50% of AEP patients, and among them around 60% develops DIC. The high AST group includes Reye syndrome(RS), mimic RS and AEP with shock syndrome.
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PMID:[Clinical variability in viral infection related acute encephalitis or encephalopathy]. 2140 Aug 54