Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.
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PMID:Neuroichthyosis with hypogonadism (Rud's syndrome). 5 Feb 99

In this two-phase study, 21 pediatric patients with epilepsy and spasticity were initially treated with dantrolene sodium suspension and, after a washout period, began a double-blind portion where one half received dantrolene sodium suspension and the other half received a placebo suspension. The frequency of seizures, serum anticonvulsant levels and electroencephalograms were compared with control values. On dantrolene sodium suspension, there was no persistent change in these parameters. Therefore, it is concluded that dantrolene sodium does not adversely affect the frequency of seizures in children with epilepsy and spasticity, who are being maintained on anticonvulsant medications.
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PMID:Effect of dantrolene sodium on the incidence of seizures in children with spasticity. 37 80

Groups of patients with intractable epilepsy or spasticity of varying etiologies underwent psychological testing before and during chronic cerebellar cortex stimulation, a neurosurgical technique designed for the relief of these symptoms. The battery of psychological tests permitted a standardized assessment of intellectual, memory, and perceptual functions. Other behavioral dimensions were assessed through structured interviews. No apparent declines in higher integrative functions followed shorter or longer term cerebellar stimulation. In contrast, stimulated patients tended to show increments in tests of recent memory and verbal output beyond that of unoperated comparison groups. Subjective reports of increased "alertness" and reduced depression and anxiety were also frequently given. Psychological and neural factors may both contribute to the observed behavioral alterations. It was concluded that the cerebellum participates in behavioral functions by modifying cortical and subcortical mechanisms relevant to integrative behavior and emotions. Specific hypotheses were presented.
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PMID:A psychometric study of chronic cerebellar stimulation in man. 78 83

This study was undertaken to evaluate the recurrence risks for sibs of patients with symmetrical spasticity (either quadriplegia or diplegia) in the absence of factors known to cause spastic cerebral palsy (e.g. pre-term birth, perinatal hypoxia). Among 669 children in the West Midlands with spastic cerebral palsy, 24 had symmetrical spasticity and normal birth histories. This group was clinically and genetically heterogenous. Among their 55 sibs, six had a spastic disorder similar to that in the index patient, and one further sib, who had died young, had been mentally retarded. Of particular interest were two families with an autosomal recessive condition of post-natal microcephaly, myoclonic epilepsy and spastic quadriplegia; and one family, and possibly a sporadic case of X-linked athetoid cerebral palsy. The recurrence risk in this series of approximately 1 in 9 suggests that about half the children with symmetrical spastic cerebral palsy and a normal birth history may have a recessive condition.
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PMID:Recurrence risks in families of children with symmetrical spasticity. 87 Mar 57

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

It is difficult to assess objectively the effectiveness of treating children with cerebral palsy during the first year of life. 50 pupils with cerebral palsy were selected for handicap and intelligence and carefully examined. All children were treated with the neurodevelopmental technique of BOBATH, 22 of them within the first year of life, 28 thereafter. The examination in school age showed differences between the two groups. When treatment is commenced before nine months of age, children with spastic diplegia resulting from premature birth are unlikely to require special schooling for reasons of their physical handicap. After early treatment, patients with severe neuromuscular dysfunction in early life frequently display disturbances of a predominantly ataxic nature when reaching school age. Spasticity appears to respond well and athetosis less favorably to early treatment. More severe brain damage in the early treated children is possibly indicated by the higher incidence of epilepsy. Pupils who were treated early show significantly fewer behavioural disturbances, with the exception of cases where symbiotic neurosis in the mother is present. This is important for the development of the personality and the individual capacity of integration.
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PMID:[Early treatment of cerebral movement disorders: findings among 50 school children]. 101 81

Vigabatrin was specifically designed to enhance gamma-aminobutyric acid (GABA) function in the CNS. By increasing brain concentrations of this inhibitory neurotransmitter the drug appears to decrease propagation of abnormal hypersynchronous discharges, thereby reducing seizure activity. At this stage in its development, clinical experience with vigabatrin is limited primarily to patients with refractory seizure disorders. In this difficult-to-treat population, 'add-on' therapy with vigabatrin greater than or equal to 2 g/day has shown impressive efficacy, reducing seizure frequency by greater than or equal to 50% in approximately half of patients. Clinical efficacy does seem to vary with seizure type with the best response reported in adults with complex partial seizures with or without generalisation and in children with cryptogenic partial epilepsy or symptomatic infantile spasm. Vigabatrin appears to have a negative effect on absences and myoclonic seizures. Some disorders of motor control may also be amenable to enhanced GABAergic function. In the small number of patients with tardive dyskinesia treated to date, vigabatrin produced mild to moderate improvement in hyperkinetic symptom scores but Parkinsonism or schizophrenic symptoms occasionally worsened. The best response was reported in a study of patients who had been withdrawn from neuroleptic therapy. In a small but well-controlled comparative trial, vigabatrin was as effective as baclofen in reducing spasm and improving some parameters of spasticity in patients with spinal cord lesions or multiple sclerosis. Most adverse reactions to vigabatrin are mild and transient with central nervous system (CNS) changes being reported most frequently. Of particular note, serial evoked potential studies and the few available histology reports have not found evidence of intramyelinic oedema during therapeutic use, as was reported in rats and dogs on chronic high-dose treatment. Thus, vigabatrin is a promising new anticonvulsant drug. Current evidence supports a trial of this agent as adjunctive therapy in patients with refractory seizure disorders, and future investigation of vigabatrin monotherapy and its efficacy relative to established agents is awaited with interest. Wider experience should help to clarify which patients - by seizure type and concurrent CNS pathology - are likely to benefit from vigabatrin and ongoing monitoring should further clarify the potential detrimental effects, if any, of long term use. In the meantime, it is a welcome addition in the difficult setting of resistant epilepsy.
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PMID:Vigabatrin. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic potential in epilepsy and disorders of motor control. 171 66

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
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PMID:The Rett syndrome in males. 234 22

Stimulating electrodes were chronically implanted unilaterally (in 1975-1977) in the vicinity of the locus coeruleus (LC) in three patients, one with cerebral palsy-spastic quadriplegia, two with epilepsy (one grand mal, one psychomotor). Effective excitation of efferent LC axons was indicated by measuring rises in 3-methoxy-4-hydroxyphenylethyleneglycol in the jugular and systemic venous blood following a 6-min stimulus with discontinuous bursts of pulses. There was a substantial reduction of spasticity during and after stimulation. Improvement was verified by double-blind failures of the stimulator, and the stimulus therapy is still in use after 9 years. There appeared to be a reduction in incidence and severity of both types of epileptic seizures, although this was not rigorously established. The patient with psychomotor epilepsy reported a considerable lengthening of preseizure auras (to 15-30 min), an unusual number of which terminated without a seizure.
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PMID:Stimulation of locus coeruleus in man. Preliminary trials for spasticity and epilepsy. 278 7

Electrophysiology of BZR ligands has been reviewed from different points of view. A great effort was made to critically discuss the arguments for and against the temporarily leading hypothesis of the mechanism of action of BZR ligands, the GABA hypothesis. As has been discussed at length in the present article, an impressive body of electrophysiological and biochemical evidence suggests an enhancement of GABAergic inhibition in CNS as a mechanism of action of BZR agonists. Biochemical data even indicate a physical coupling between GABA recognition sites and BZR which, together with the effector site build-up by Cl- channels, form a supramolecular GABAA/BZR complex. By binding to a specific site on this complex, BZR agonists allosterically increase and BZR inverse agonists decrease the gating of GABA-linked Cl- channels, whereas BZR antagonists bind to the same site without an appreciable intrinsic activity and block the binding and action of both agonists as well as inverse agonists. While this model is supported by many electrophysiological experiments performed with BZR ligands in higher nanomolar and lower micromolar concentrations, it does not explain much controversial data from animal behavior and, more importantly, is not in line with electrophysiological effects obtained with low nanomolar BZ concentrations. The latter actions of BZR ligands in brain slices occur within a concentration range compatible with concentrations of BZ observed in CSF fluid, which would be expected to be found in the biophase (receptor level) during anxiolytic therapy in man. Enhanced K+ conductance seems to be a suitable candidate for this effect of BZR ligands. This direct action on neuronal membrane properties may underlie the many electrophysiological observations with extremely low systemic doses of BZR ligands in vivo which demonstrated a depressant effect on spontaneous neuronal firing in various CNS regions. Skeletomuscular spasticity and epilepsy are two neurological disorders, where both the enhanced GABAergic inhibition and increased K+ conductance may contribute to the therapeutic effect of BZR agonists, since electrophysiological and behavioral studies strongly support GABA-dependent as well as GABA-independent action of BZR ligands elicited by low to intermediate doses of BZ necessary to evoke anticonvulsant and muscle relaxant effects. Somewhat higher doses of BZR ligands, inducing sedation and sleep, lead perhaps to the only pharmacologically relevant CNS concentrations (ca. 1 microM) which might be due entirely to increased GABAergic inhibition.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Electrophysiology of benzodiazepine receptor ligands: multiple mechanisms and sites of action. 285 56


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