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)

Juvenile myoclonic epilepsy does not seem to be recognized as often as it should be, accounting as it does for about one in 10 of those with epilepsy. In addition to the myoclonus, absence seizures and tonic-clonic fits can occur. The interictal EEG shows polyspike and wave discharges, and during the myoclonus, medium to high amplitude 16 Hz spikes. Patients may not be seen by a doctor until a major seizure occurs, and if a history of myoclonus is not obtained, inappropriate treatment may be given. The myoclonus may attributed to clumsiness. The inheritance of the condition is most probably polygenic, although it is claimed that juvenile myoclonic epilepsy may be determined by a single autosomal recessive gene. The most effective treatment is with sodium valproate, and this may have to be life-long. In the presence of major seizures carbamazapine should be used with caution as it may exacerbate minor attacks.
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PMID:Review: juvenile myoclonic epilepsy. 803 30

A 68-year-old woman with parkinsonism showed cortical myoclonus and seizures under antiparkinsonian medication. Myoclonus was induced and enhanced by L-dopa, developing into generalized seizures. EEG was abnormal and somatosensory-evoked potentials (SEPs) showed giant SEPs, transcortical reflex (C reflex) and jerk locked potentials. Myoclonus and seizures disappeared after discontinuation of L-dopa and the introduction of valproate sodium (VPA). We described the occurrence of L-dopa-induced myoclonus and seizures in a case of parkinsonism with its SEPs findings.
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PMID:Myoclonus and seizures in a patient with parkinsonism: induction by levodopa and its confirmation on SEPs. 830 77

Twenty-one patients with disabling spontaneous, reflex, or action myoclonus due to various causes, who had shown apparent clinical improvement on introduction of piracetam, entered a placebo-controlled double-blind crossover trial of piracetam (2.4-16.8 g daily). All but one patient had electrophysiological evidence of cortical myoclonus. Patients were randomly allocated to a 14-day course of piracetam followed by identical placebo, or placebo followed by piracetam. Nineteen patients received piracetam/placebo in addition to their routine antimyoclonic treatment (carbamazepine, clonazepam, phenytoin, primidone, sodium valproate, or tryptophan plus isocarboxazid, alone or in combination) and two received piracetam/placebo as monotherapy. All patients were rated at the end of each treatment phase using stimulus sensitivity, motor, writing, functional disability, global assessment, and visual analogue scales. Ten of the 21 patients had to be rescued from the placebo phase of the trial because of a severe and intolerable exacerbation of their myoclonus. No patients required rescue from the piracetam phase of the double-blind trial. When the 21 patients were considered together, there was a significant improvement in motor, writing, functional disability, global assessment, and visual analogue scores during treatment with piracetam compared with placebo. The total rating score also improved significantly with piracetam, by a median of 22%. Piracetam, usually in combination with other antimyoclonic drugs, is a useful treatment for myoclonus of cortical origin.
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PMID:Effectiveness of piracetam in cortical myoclonus. 841 9

Five patients aged 12 to 16 years old were admitted between 1987 and 1994 at the neurological unit because of uncontrolled epilepsy. They had had a normal development until the adolescence, when a history of poor school performance and memory difficulty started. It is emphasized the clinical sequence of dementia followed by tonic-clonic seizures and myoclonus, the positive family history and the difficult therapeutic management, in spite of multiple anticonvulsant combinations, including sodium valproate and clonazepam. The clinical and laboratory differential diagnosis were discussed to show that similar cases should be submitted to skin biopsy looking for Lafora bodies in apocrine and eccrine glands. However, the liver is considered as the most reliable site for the biopsy, which in our study showed positivity in four out of the five cases.
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PMID:[Lafora's disease: a possible diagnosis of juvenile dementia]. 854 Aug 22

Propriospinal myoclonus is a rare and relatively little studied complication of spinal cord injury. We report two patients with an extension-producing myoclonus presenting with tetraplegia caused by cervical trauma. Rhythmic extension jerks of the trunk and lower limbs appeared several weeks after their injury in a context of severe spasticity. The characteristics of these jerks were determined by polymyography of 12 muscles. They lasted between 306 and 1127 ms with a frequency of 0.3 to 0.5 Hz. By comparing latencies their origin was found to be in the lumbar cord from which there was a slow (2 m s-1) upward and downward spread. Oral treatment with baclofen and sodium valproate was partially successful in one patient, but ineffective in the other. Intrathecal 75 or 100 micrograms baclofen produced a striking, complete disappearance of myoclonus prompting the implantation and successful use of a baclofen pump in one patient. These two new cases suggest the existence of a lumbar generator in which myoclonic extension jerks originate, and demonstrate a new therapeutic alternative in intrathecal baclofen for patients resistant to oral medication.
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PMID:Propriospinal myoclonus in tetraplegic patients: clinical, electrophysiological and therapeutic aspects. 858 5

Cases of two Japanese siblings with adult-onset sialidosis type I are reported. A 38-year-old man had gradually developed involuntary movement of the extremities from the age of 31. On admission, he had no skeletal abnormalities and hepatosplenomegaly, but showed myoclonus of the extremities and dyskinesia in the perioral region. We found cherry-red spots and a giant potential in a somatosensory evoked potential (SEP) study. Then, the diagnosis of sialidosis type I was confirmed by low activity of white blood cell sialidase. MRI (SE, TR 2,000/TE 100, 40) of the brain revealed a small high intensity are in the cerebral white matter adjacent to the posterior horn of the right cerebral ventricle. To our knowledge, no report on MRI findings of the brain in sialidosis type I has been reported. So far, it is uncertain whether or not such a lesion is caused by sialidosis. He was treated with clonazepam, sodium valproate, diphenylhydantoin, or haloperidol. The former two improved the symptoms, but SEP findings did not change. The subject's 43-year-old brother had also myoclonus and epilepsy since the age of 31, and low activity of sialidase. Their mother had no symptoms, but her sialidase activity level was as low as that of a carrier. These two are the eighth and ninth cases of sialidosis type I in Japan to be confirmed by enzyme activity.
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PMID:[Two siblings with adult-onset sialidosis type I (cherry-red spot-myoclonus syndrome)]. 877 7

Lamotrigine (LTG) was used in 12 patients with juvenile myoclonic epilepsy (JME) who either had sodium valproate (VPA) side effects or did not wish to take VPA. Five patients are now fully controlled on LTG monotherapy. Side-effects were corrected by VPA withdrawal or reduction except for severe weight gain. In three patients it was not possible to withdraw VPA due to the re-emergence of myoclonus, suggesting LTG-VPA synergism. Two patients had successful pregnancies whilst taking LTG. Lamotrigine is a useful alternative in the management of JME.
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PMID:The use of lamotrigine in juvenile myoclonic epilepsy. 879 32

A patient with a history of cerebrovascular disease, hypertension, and previous gastrectomy developed metabolic alkalosis and myoclonus. His medications included the anti-hypertensive agents nicardipine hydrochloride, delapril, prazosin; dihydroergotoxin and ticlopidine for cerebral infarction; estazolam for insomnia; azuren-L-glutamine compound and S-M powder. In addition, he had taken 12 grams per day of Ohta's Isan antacid, which contained 625 mg sodium bicarbonate per 1.3 g of antacid powder over a 6-month period. This antacid is commonly used in Japan. This is the first report of a case of metabolic alkalosis and myoclonus secondary to ingestion of a commercially available antacid in Japan.
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PMID:Metabolic alkalosis and myoclonus from antacid ingestion. 883 8

The treatment of myoclonus is mainly based on the pathophysiological origin of the neuronal discharges producing the jerks. Myoclonus of cortical origin responds best to treatment. Drugs commonly used to treat epilepsy are usually capable of controlling action and stimuli-sensitive cortical myoclonus. Piracetam (6-20 g/day), clonazepam (2-12 mg/day), sodium valproate (1,200-3,000 mg/day), and primidone (500-1,000 mg/day) are the most useful ones, often given in combination. Myoclonus of non-cortical origin, i.e. reticular reflex myoclonus or spinal myoclonus, may respond to serotoninergic drugs and clonazepam, but there is much less scientific documentation and rationale behind the therapeutic approach to these different forms, and hence greater variability in the response. No specific drug treatment is yet available for negative myoclonus (Asterixis and postural lapses).
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PMID:Therapy of myoclonus. 889 99

Glycine is a major inhibitory neurotransmitter in the spinal cord and brainstem of vertebrates. Glycine is accumulated into synaptic vesicles by a proton-coupled transport system and released to the synaptic cleft after depolarization of the presynaptic terminal. The inhibitory action of glycine is mediated by pentameric glycine receptors (GlyR) that belong to the ligand-gated ion channel superfamily. The synaptic action of glycine is terminated by two sodium- and chloride-coupled transporters, GLYT1 and GLYT2, located in the glial plasma membrane and in the presynaptic terminals, respectively. Dysfunction of inhibitory glycinergic neurotransmission is associated with several forms of inherited mammalian myoclonus. In addition, glycine could participate in excitatory neurotransmission by modulating the activity of the NMDA subtype of glutamate receptor. In this article, we discuss recent progress in our understanding of the molecular mechanisms that underlie the physiology and pathology of glycinergic neurotransmission.
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PMID:Molecular biology of glycinergic neurotransmission. 929 60


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