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)

Focal hand dystonia in musicians is a strongly task-related movement disorder. Typically, symptoms become apparent only when players execute specific overpracticed skilled exercises on their instrument. We therefore examined five guitarists with functional MRI during dystonic symptom provocation by means of an adapted guitar inside the magnet. The activation patterns obtained in comparable nondystonic guitarists and in the study patients when performing normal-hand exercise served as references. A 1.5-T system equipped with echo-speed gradients and single-shot echoplanar imaging software was used. Data acquisition was centered on the cortical motor system encompassed in eight contiguous slices. Dystonic musicians compared with both control situations showed a significantly larger activation of the contralateral primary sensorimotor cortex that contrasted with a conspicuous bilateral underactivation of premotor areas. Our results coincide with studies of other dystonia types in that they show an abnormal recruitment of cortical areas involved in the control of voluntary movement. However, they do suggest that the primary sensorimotor cortex, rather than being underactive in idiopathic dystonic patients, may be overactive when tested during full expression of the task-induced movement disorder.
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PMID:Brain cortical activation during guitar-induced hand dystonia studied by functional MRI. 1094 8

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1. Patient's blood test revealed G6PD deficiency. Hence, a diagnosis of G6PD deficiency leading to kernicterus was made. In a child, the diseases that may affect the basal ganglia symmetrically and bilaterally include kernicterus, hypoxia, carbon monoxide poisoning, hypoglycemia, inherited metabolic and dysmyelinating disorders like Leigh disorder, Canavan and Krabbe, Neurofibromatosis, Herpes encephalitis, congenital HIV infection, manganese poisoning and extrapontine myelinolysis. Important causes of kernicterus are Rh incompatibility, ABO incompatibility, sepsis, hemolytic anaemia and G6PD deficiency. G6PD deficiency leading to kernicterus should be considered a differential diagnosis of bilateral basal ganglia lesions in children. Proper elicitation of history with appropriate blood biochemical tests will help in arriving at a proper diagnosis.
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PMID:B/L Basal Ganglia Lesions in a Child Leading to a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency. 2988 84