Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young woman, with negative family history, committed suicide after 6 years of myoclonus and mental deterioration. The neurons contained atypical myoclonus bodies which differed from the classical type in distribution, histochemistry and light and electron microscopic appearance.
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PMID:Atypical myoclonus body epilepsy (adult variant). 12 26

A 37-year-old woman presented with acute cerebellar atrophy after ingesting toxic doses of tricyclic antidepressants in an attempt of suicide. Two hours after ingestion, she was comatose and showed myoclonus of the limbs, and eventually developed status epileptics. The patient underwent general anesthesia with thiopental, she had hyperpyrexia with elevated muscle enzymes and leukocytosis. These clinical and laboratory features suggested that she had serotonin syndrome (SS). After recovery from coma and hyperpyrexia that had lasted for 7 days, she showed cerebellar ataxia, and progressive cerebellar atrophy of CT scan. As well as neuroleptic malignant syndrome, the SS may cause cerebellar degeneration, probably due to sustained hyperpyrexia.
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PMID:[Progressive cerebellar atrophy following acute antidepressant intoxication]. 1129 69

We describe two affected individuals in a family with myoclonus-dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.
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PMID:Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. 1723 Apr 65