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)

Two patients with the syndrome of Ramsay Hunt (dyssynergia cerebellaris myoclonica, DCM), associated with malabsorption due to adult coeliac disease, are reported. Both presented with progressive cerebellar ataxia, action myoclonus, and epilepsy. One had gastrointestinal symptoms (recurrent diarrhea and weight loss which responded satisfactorily to a gluten-free diet), but the other did not. In both patients, jejunal biopsy revealed subtotal villous atrophy; serum folate and vitamin E level were also reduced. Neither a gluten-free diet nor vitamin supplements improved the neurological picture. However, some symptomatic relief was afforded by treatment with clonazepam, sodium valproate, carbamazepine, and piracetam. It could be argued that the association between these two disorders is coincidental. However, since we have found this combination in 2 of 14 consecutive cases with DCM, a causal relationship seems likely, although the underlying mechanism remains unknown. Patients with the Ramsay Hunt syndrome should be investigated for malabsorption, and also undergo small intestinal biopsy.
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PMID:Ramsay Hunt syndrome and coeliac disease: a new association? 847 11

The finding of increased activity of the enzyme extracellular superoxide dismutase in four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type (PME-UL) prompted the addition of antioxidants to these patients' treatment regimen. After 6 months treatment with vitamin E, selenium, riboflavin, and zinc, there was some improvement in patient awareness and speech. N-acetylcysteine (NAC) is a sulfhydryl antioxidant that increases cellular glutathione and the activity levels of several antioxidant enzymes and has additional actions that contribute to its demonstrated efficacy in preventing or decreasing damage in models of neuronal toxicity. We treated the affected siblings with 4 to 6 grams a day of NAC in addition to the other antioxidants and magnesium. There has been a marked decrease in myoclonus and some normalization of somatosensory evoked potentials with NAC treatment. The patients were treated with NAC for up to 30 months with continued beneficial effects. NAC may prevent further deterioration in the clinical course of patients with PME-UL and may be indicated in other neurodegenerative conditions where excess free radical activity may contribute to disease progression.
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PMID:Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. 890 41

Drug-induced tardive motor syndromes (TMS) is a group of disorders, characterized by involuntary movements of the tongue, face, lips, trunk and extremities, occurring after long-term exposure to a variety of pharmacological agents, mostly neuroleptics. The diagnosis of TMS requires exposure to dopamine receptor blocking agents for a period at least of 3 months, although for people over 60 years old the necessary exposure period is limited to 1 month. The exact pathophysiology still remains obscure. The aim of this article is to review the phenomenology, epidemiology and treatment options of the TMS, as clinically distinct movement disorders. TMS include tardive dyskinesia, which is the most common movement disorder, tardive dystonia, tardive akathisia, tardive Tourettism, tardive tremor and tardive myoclonus as well as some specific syndromes less often presented such as Pisa, Meige and Rabbit syndromes. Prevention remains the cornerstone in good clinical practice. Preventive approach requires thorough diagnostic process with frequent reviews in order to determine the necessity of use and dosing of neuroleptic treatment. Clinical vigilance for early detection of signs of TMS as well as recording of early extrapyramidal side-effects in the patient's history is needed, as these may predict the occurrence of TMS. In case of occurrence of TMS, gradual discontinuation of the offending agent is required. Therapeutic interventions include the administration of the following agents: atypical antipsychotics (mainly clozapine), benzodiazepines, vitamin E, reserpine, tetrabenazine, anticholinergics, botulinum toxin A. The early management of TMS is crucial for the patients' better clinical outcome and improved quality of life.
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PMID:Drug-induced tardive motor syndromes. 2246 75