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)

Myoclonus is a phenomenon which cuts through a considerable number of neurological conditions. It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, Lennox-Gastaut syndrome, also known as "petit mal variant"), in inborn errors of metabolism (Tay-Sachs disease, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary myoclonus epilepsy (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, Jakob-Creutzfeldt disease), in metabolic encephalopathies (renal failure, hypoglycemia), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states. The EEG plays a crucial role in the differential diagnosis of these conditions by the demonstration of a) presence or absence of typical inter-ictal abnormalities, and b) various correlates of the myoclonic ictal event.
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PMID:Myoclonus and the electroencephalogram, a review. 11 May 3

3-Methylglutaconic aciduria is an organic aciduria with diverse phenotypic presentations. In more than half of the cases it is a 'neurologic or silent organic aciduria', and, except for one subtype, the biochemical defect is unknown. This report describes 10 new patients. Four of them presented with early global neurologic involvement and arrested development. They rapidly became demented, developed myoclonus or tonic-clonic seizures, spastic quadriplegia, deafness and blindness, and died. Three had acidosis and hypoglycemia neonatally; later, myoclonus and deafness, and eventually severe mental retardation and spastic quadriplegia developed. One patient died. In three children who presented with sudden onset of extrapyramidal tract symptoms, with or without optic atrophy, the clinical presentation was significantly different from that described either for 'unspecified' type or for Costeff syndrome. All three patients showed clinical improvement soon after treatment with coenzyme Q.
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PMID:3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. 757 69