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)

Four children who at ages from five months to three years developed an acute (one case), subacute (two cases) and chronic form (one case) clinical picture of ataxia, myoclonus, ocular dyskinesia and behaviour disorder are reported. In one of them there was, in addition mental retardation. Response to treatment with ACTH was successful. Clinical and evolutive characteristics of this process as well as the variety of ocular manifestations are emphasized.
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PMID:[Kinsbourne's disease. Study of four cases (author's transl)]. 69 15

This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous sclerosis, phenylketonuria and recent immunization etc. were possible etiology. Clinically, it is characterized by head nodding, mental retardation, myoclonic jerks and various neurologic deficits. EEG findings showed classical or modified arrhythmia or other epileptiform patterns. About one third of 22 cases examined had abnormal brain stem auditory evoked potentials. Among 42 patients who underwent CT scanning before ACTH treatment, 18 were normal and 7 abnormal; during ACTH treatment 3 normal and 4 abnormal; after completion of treatment, 4 normal and 6 abnormal, suggesting no further atrophy of the brain. Examination of trace elements of the hair by proton-induced X-ray emission (PIXE) method in 23 patients revealed a significant difference in lead, calcium and zinc contents between patients and 101 controls, but no statistical difference in iron and copper contents between the two groups. Sodium valproate, prednisone and ACTH appear to be effective in the treatment of infantile spasms. Eight patients fully recovered, and they can go to school without difficulty. Many patients derived various degrees of improvement of the satisfaction of their parents. Two patients were still amended and often attacked by myoclonus. The effects, side effects of these drugs, and the possible pathogenesis were discussed.
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PMID:[Infantile spasms. A retrospective study of 105 cases]. 131 83

We reported a female infant with early myoclonic encephalopathy (EME). She was diagnosed on the basis of clinical and laboratory features including electroencephalographic and magnetic resonance image (MRI) findings. Frequent erratic myoclonic seizures appeared since 28 days after birth and EEG showed a typical suppression-burst pattern. We administered a high-dose pyridoxal phosphate, thyrotropin-releasing hormone analogue (TRH), and then ACTH, but could not control the seizures at all. With seizure types, we observed the change from erratic myoclonus to tonic spasms in series, with concomitant EEG change to hypsarhythmia at the age of 6 months. Cranial MRI revealed delayed myelination in the white matter but no brain malformation. We administered ACTH to her again and succeeded partially in the decrease of the seizure frequency, and significantly in the improvement of EEG findings. It is supposed that the responsiveness to ACTH treatment changed with age as the seizure patterns developed from erratic myoclonus to tonic spasm.
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PMID:[A longitudinal study of clinical and electroencephalographic findings in a female infant with early myoclonic encephalopathy]. 165 45

This paper is a summary of our observations on 105 cases of infantile spasms. The age of onset was around six months after birth, but the patients came for treatment mainly about one year after onset. Fever of unknown cause, asphyxia, birth injury, infection of the central nervous system, tuberous sclerosis, phenylketonuria and recent immunization etc. were complained. Clinically, it is characterized by head nodding, mental retardation, myoclonic jerks and various neurologic deficits. EEG findings showed classical or modified arrythmia or other epileptiform patterns. About one third of 22 cases examined had abnormal brain stem auditory evoked potentials. Among 42 patients who underwent CT scanning before ACTH treatment, 18 were normal and 7 abnormal; during ACTH treatment 3 normal and 4 abnormal; after completion of treatment, 4 normal and 6 abnormal, suggesting no further atrophy of the brain. Examination of trace elements of the hair by particle-induced X-ray emission (PIXE) method in 23 patients revealed a significant difference in lead, calcium and zinc contents between patients and 101 controls, but no statistical difference in iron and copper contents between the two groups. Sodium valproate, prednisone and ACTH appear to be effective in the treatment of infantile spasms. Eight patients fully recovered, and they can go to school without difficulty. Many patients derived various degrees of improvement to the satisfaction of their parents. Two patients were still amented and often attacked by myoclonus. The effects, side effects of these drugs, and the possible pathogenesis were discussed.
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PMID:Infantile spasms. A retrospective study of 105 cases. 165 8

The capacity of the serotonin (5-HT) precursor 5-HIP to induce the ACTH-responsive myoclonic-convulsive disorder infantile spasms in patients with Down's syndrome has been cited as evidence for altered serotonergic neurotransmission in infantile spasms. Since there is no animal model of infantile spasms, the suitability of behavioral supersensitivity (myoclonus) evoked by 5-HTP in rats with 5,7-dihydroxytryptamine (DHT) lesions as a model was tested by determining the effect of chronic treatment with ACTH (40 IU/kg) on 5-HTP-evoked myoclonus. In rats treated with DHT as adults, ACTH administration did not alter the "serotonergic behaviors," such as myoclonus, induced by 30 mg/kg 5-hydroxytryptophan (5-HTP), but induced a small significant increase in Bmax of neocortical 5-HT2 sites of the DHT group, with no change in rats without lesions. In rats treated with DHT as neonates, there was also no significant difference in behaviors evoked by several doses of 5-HTP. These data suggest that ACTH minimally modifies the effects on 5-HT receptors of DHT lesions, but the intracisternal DHT model is not a suitable model for infantile spasms because chronic ACTH was not antimyoclonic.
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PMID:Chronic ACTH treatment: influence on 5-HT2 receptors and behavioral supersensitivity induced by 5,7-dihydroxytryptamine lesions. 254 29

The capacity of the putative S2 serotonin receptor antagonists, pirenperone, pipamperone, ketanserin and cinanserin, to block the myoclonic syndrome produced by 30 mg/kg of L-5-hydroxytryptophan (5-HTP) [after lesioning 5-hydroxytryptamine (serotonin, 5-HT)-containing neurons with 5,7-dihydroxytryptamine (DHT)] or 15 mg/kg of fenfluramine (FF) or p-chloroamphetamine (PCA) was tested in adult male Sprague-Dawley rats. S2 antagonists inhibited limb (arrhythmic and asynchronous) and axial (truncal) myoclonus in a dose-dependent manner in the rank order of potency: pirenperone greater than pipamperone greater than ketanserin = cinanserin. Abnormal movements (myoclonus, lateral head weaving) of the myoclonic syndromes were better antagonized than postural abnormalities (hindlimb abduction, hunching of back). Centrally acting drugs, selective for S2 receptors (pirenperone, pipamperone), exhibited greater antimyoclonic properties than the non-selective 5-HT antagonist methysergide, which was as effective as ketanserin and cinanserin. Significant non-specific reduction in myoclonus without the improvement of other behavioral responses followed treatment with sedative/neuroleptic drugs, such as haloperidol (but not the non-neuroleptic dopamine antagonist sulpiride), clonazepam and diazepam. The anticonvulsants valproic acid (100 and 300 mg/kg), adrenocorticotrophic hormone (ACTH; 100 and 300 U/kg), diphenylhydantoin (15 mg/kg), and phenobarbital (20 mg/kg) and drugs which do not act principally at S2 receptors were ineffective in these models. These data support the hypothesis that myoclonus in behavioral models induced by 5-HT is S2 receptor mediated. S2 antagonists could have a role in the treatment of human myoclonus.
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PMID:Antimyoclonic properties of S2 serotonin receptor antagonists in the rat. 293 77

Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome. These tests resulted negative. Differential diagnosis was considered in relation to other conditions which present a characteristic symptomatology similar to Kinsbourne's syndrome. Synthetic ACTH (Synacthen) treatment produced a regression of the clinical symptoms. Based on the examinations carried out, which always resulted negative even after 36 months, and on the drug dependence, the present case was diagnosed as primitive opsoclonus.
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PMID:[Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)]. 383 5

The ataxia-opsoclonus-myoclonus syndrome that was well individualized by Kinsbourne is mostly observed in young children (less than three years old in 90 percent of the cases). From six personal cases, and from a review of ninety cases of the literature, the clinical and etiological features, as well as the evolution of the syndrome, are studied. Prodromes (infectious and digestive manifestations) and comportmental changes usually precede the sudden onset of the clinical triad. Neurologic complementary investigations are typically normal during the acute phase. The frequent association (46 percent of the cases) of this syndrome to a neuroblastoma (usually thoracic) makes it very particular from the etiological point of view. The evolution is identical whatever the type ("isolated" or "tumoral"). Corticotherapy (ACTH or corticoids) is efficient in 60 percent of the cases. But recurrences and cerebral sequelae (mental deficiency and speech disorders) are frequent.
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PMID:[Ataxia-opsoclonus-myoclonus syndrome]. 626 94

Within the past 11 years, 11 patients with opsoclonus and myoclonus, with or without a history of neuroblastoma, have been admitted to Children's Memorial Hospital. Eight of the 11 children had an occult neuroblastoma. Eight children have had subsequent delayed development with motor incoordination and speech delay (7 with neuroblastoma, 1 without). Nine of 11 children initially were treated with ACTH, 1 child was treated with prednisone, and 1 was not treated. Nine of the 10 children who were treated had recurrences of symptoms during the gradual withdrawal or discontinuation of ACTH. Often the ACTH had to be restarted or increased, although several times the episodes were self-limited, not requiring treatment after ACTH was withdrawn. We found prednisone was ineffective in controlling opsoclonus-myoclonus regardless of etiology. The majority of children with opsoclonus-myoclonus, regardless of etiology, have developmental delay, more severe and at a higher rate than previously reported. When a neuroblastoma was present, tumor removal did not improve symptoms. Although limited in size, our study indicates patients with opsoclonus-myoclonus without an associated neuroblastoma have a better chance for normal neurologic development (2/3 versus 1/8).
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PMID:Outcome of children with opsoclonus-myoclonus regardless of etiology. 757 43

Antibodies to ACTH1-24 detected by radioimmunoassay were present in the serum of a child with opsoclonus-myoclonus for at least 24 weeks after discontinuation of chronic ACTH treatment. The antibody-bound ACTH did not interfere with cortisol secretion. Six other children with opsoclonus-myoclonus and 16 control sera, including patients with chronically elevated endogenous ACTH, did not exhibit autoantibodies to ACTH. Antibodies to ACTH should be sought in patients who develop tolerance to ACTH treatment. The indirect but not direct ACTH assay method is sensitive to the presence of ACTH antibodies.
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PMID:Antibodies to ACTH in opsoclonus-myoclonus. 839 29


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