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)

While the 5-HT precursors tryptophan and 1-5-HTP cause an increase in serum prolactin concentration, a combination of 1-5-HTP with a peripheral decarboxylase inhibitor was found to reduce the serum prolactin concentration. This combination seemed to behave like a DA agonist. This effect is not produced by the decarboxylase inhibitor per se. A possible explanation is that 5-HTP is converted to 5-HT in CA-ergic neurons, that 5-HT supersedes the CA from the stores, and that some of the CA reach the synaptic cleft and stimulate CA receptors. Another possible explanation is that 5-HTP decarboxylase is centrally inhibited as well, and that an effect of 5-HTP itself is involved here. In view of the observations made it is doubtful whether the therapeutic effect of 5-HTP combined with a peripheral decarboxylase inhibitor in depressions and myoclonus can in fact be atributed to activation of central serotonergic systems.
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PMID:An unexpected effect of L-5 hydroxytryptophan-ethyl-ester combined with a peripheral decarboxylase inhibitor on human serum prolactin. 108 2

Confusion between syncope and epileptic seizures is a common problem in clinical practice. Recently, new insights into the phenomenology of transient cerebral hypoxia have been gained from video analysis of experimentally induced syncope. Common elements of syncope include multifocal and generalized myoclonus, tonic body extension, automatisms, vocalizations, eye deviations and hallucinations. Thus, it is not the presence or absence of these features but their specific character that distinguishes syncope from epileptic seizures. Other clues for differential diagnosis include precipitating factors, premonitory symptoms and postictal events, such as tongue bites and postictal confusion, which has been identified as the single most powerful factor discriminating syncope from epileptic seizures. In contrast, incontinence and head injury are common in both conditions. Investigations such as electroencephalogram, tilt testing and postictal prolactin or creatine kinase levels may aid diagnosis but are never diagnostic in isolation. In rare cases, hypoxic and epileptic mechanisms may interact within one attack.
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PMID:[Syncope. Phenomenology and differentiation from epileptic seizures]. 938 Feb 6

The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus-dystonia syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, dystonia and bradykinesia. Blood prolactin was increased and CSF homovanillic acid, 5-hydroxyindoleacetic acid, and biopterin were all reduced. L-Dopa/carbidopa administration resulted in clinical improvement. In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R).
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PMID:Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. 1239 38