Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Carbamazepine is an anticonvulsant most effective in treating complex partial and generalized tonic-clonic seizures. We have cared for three children in whom four episodes of dystonia proceeding to opisthotonus occurred in association with carbamazepine use. The patients, a 4-year-old with microcephaly and severe retardation, a 1-year-old with cerebral dysgenesis, and a 5-year-old with spastic quadriplegia and mild retardation, all had seizures unresponsive to multiple anticonvulsant combinations. In all three patients carbamazepine was introduced and gradually increased to a maximum dosage of 25 mg/kg of body weight per day. Dystonic symptoms began two to three weeks after introduction of therapy and subsided within three weeks after discontinuation. In one child, a second course of carbamazepine resulted in a return of the dystonia. The currently available clinical and neuropharmacologic data suggest that carbamazepine may be an antagonist of dopamine and that this property is responsible for the production of dystonia.
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PMID:Dystonia associated with carbamazepine administration: experience in brain-damaged children. 44 Aug 73

Four cases of hypnogenic paroxysmal dystonia are described. The patients (three males and one female), aged between 12 and 39 were subjected to neurological, physical and psychological examination, and routine lab tests and brain CT scan were carried out within normal limits. One of the patients suffered from diurnal epileptic seizures. Repeated EEG recordings during wakefulness were normal. During polysomnographic and TV recordings the patients showed different types of dystonic fits occurring several times a night, always brief, and starting during NREM sleep. Carbamazepine therapy proved to be relatively effective in three subjects.
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PMID:Hypnogenic paroxysmal dystonia: a new type of parasomnia? 339 5

Extrapyramidal syndromes have been described after administration of phenytoin and primidone. Although asterixis, dystonia, and tremor have been described with carbamazepine (Tegretol), there is no report of orofacial dyskinesia. We report a case in which a dose-related lingual-facial-buccal extrapyramidal reaction occurred in association with carbamazepine intoxication.
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PMID:Carbamazepine-induced orofacial dyskinesia. 719 14

We report six patients with dystonia-parkinsonism syndrome having a common characteristic clinical course of dystonia with subsequent development of levodopa-responsive parkinsonism. Various types of dystonic symptoms were observed such as hemidystonia, torticollis, axial dystonia, focal dystonia, or cranial dystonia (Meige's syndrome). Intervals between the onset of dystonia and that of parkinsonism varied from one year to about 20 years or the more. Levodopa and a dopamine against had inconstant effects on their dystonic symptoms except for the torticollis of the patients; on the other hand, parkinsonism were well relieved by levodopa in all of them. Dystonic symptoms showed heterogeneous drug effects. Carbamazepine had a beneficial effect on hemidystonia in a patient with hemidystonia-parkinsonism. In a patient with an unilateral hand cramp-ipsilateral parkinsonism, the focal dystonic symptom was evoked by cigarette smoking. Meige's syndrome became worse by the administration of levodopa. In contrast, in a patient with younger onset toriticollis-parkinsonism, both symptoms were fully relieved by levodopa. From the clinical and pharmacological points of views, this type of dystonia-parkinsonism, characterized by dystonia with later development of dopa-responsive parkinsonism, is a syndrome showing heterogeneous dopa-response, and it remains uncertain, at the present, that whether or not patients reported here share the same clinicopathological background such as striatal dopamine deficiency.
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PMID:[Dystonia preceding dopa-responsive parkinsonism--heterogeneous clinical features]. 886 94

Paroxysmal dyskinesias are intermittent attacks of involuntary hyperkinetics abnormal movements. Among paroxysmal dyskinesias were individualized three entities: paroxysmal kinesigenic choreoathetosis, paroxysmal choreoathetosis of Mount and Reback, hypnogenic paroxysmal dystonia. New classifications are based upon the circumstances of occurrence, the duration of attacks and their etiology. We report here two observations of idiopathic non familial paroxysmal dyskinesias in three-year-old children. Both were seen first in consultation for falls and nocturnal motor agitation. The attacks were paroxysmal jerky "puppet-like" movements lasting from 20 seconds to 15 minutes. They could occur during non REM sleep, during the day, at rest, after a sudden movement, or during prolonged exercise. Carbamazepine was inefficient. These cases were not classifiable according to the classical criteria and could constitute a new entity. Moreover, some sleep-EEG showed abnormal patterns (frontal rapid rhythms, central spikes in one case) and led us to discuss the pathophysiology of this episodic movements disorder, and its relation with frontal partial epilepsy.
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PMID:[Diurnal and nocturnal paroxysmal dyskinesia in young children: a new entity?]. 929 45

A 15-year-old boy presented with a severe fluctuating foot and ankle dystonia resulting from a basal ganglia insult at the age of 4. This followed an embolic event related to an undiagnosed prolapsed mitral valve. Functionally, the patient was ambulatory with rocker bottom crutches and an ankle-foot orthosis, but there were periods of up to a year when pain and increased dystonic deformity required him to use a wheelchair. A new orthotic was made nearly every month because the orthotist could find no material that would withstand his tone without breaking, yet he could not ambulate without one. Multiple interventions, including biofeedback, contrast baths, stretching and strengthening, oral lioresal (Baclofen), diazepam (Valium), benztropine mesylate (Cogentin), carbidopa-levodopa (Sinemet), carbamazepine (Tegretol), and injections of botulism toxin (BOTOX) were tried, all with minimal effects. Amputation was recommended, based on anatomic and functional considerations. The patient and his family adjusted well to this decision, although not all orthopedists and therapists adjusted easily to the choice. The patient is now functionally independent with a prosthesis and has a normal teenage lifestyle for the first time.
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PMID:An aggressive approach to limb dystonia: a case report. 959 5

Nocturnal frontal lobe epilepsy (NFLE) has been delineated as a distinct syndrome in the heterogeneous group of paroxysmal sleep-related disturbances. The variable duration and intensity of the seizures distinguish three non-rapid eye movement-related subtypes: paroxysmal arousals, characterized by brief and sudden recurrent motor paroxysmal behaviour; nocturnal paroxysmal dystonia, motor attacks with complex dystonic-dyskinetic features; and episodic nocturnal wanderings, stereotyped, agitated somnambulism. We review the clinical and polysomnographic data related to 100 consecutive cases of NFLE in order to define the clinical and neurophysiological characteristics of the different seizure types that constitute NFLE. NFLE seizures predominate in males (7:3). Age at onset of the nocturnal seizures varies, but centres during infancy and adolescence. A familial recurrence of the epileptic attacks is found in 25% of the cases, while 39% of the patients present a family history of nocturnal paroxysmal episodes that fit the diagnostic criteria for parasomnias. A minority of cases (13%) have personal antecedents (such as birth anoxia, febrile convulsions) or brain CT or MRI abnormalities (14%). In many patients, ictal (44%) and interictal (51%) EEGs are uninformative. Marked autonomic activation is a common finding during the seizures. NFLE does not show a tendency to spontaneous remission. Carbamazepine completely abolishes the seizures in approximately 20% of the cases and gives remarkable relief (reduction of the seizures by at least 50%) in another 48%. VideoEEG recordings confirm that NFLE comprises a spectrum of distinct phenomena, different in intensity but representing a continuum of the same epileptic condition. We believe that the detailed clinical and videoEEG characterization of patients with NFLE represents the first step towards a better understanding of the pathogenic mechanisms and different clinical outcomes of the various seizure types that constitute the syndrome.
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PMID:Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. 1035 56

Nocturnal paroxysmal dystonia (NPD) is the term used to describe motor attacks characterized by complex behavior, with dystonic-dyskinetic or ballic movements arising from NREM sleep. NPD together with paroxysmal arousals (PA), the briefest attacks, and episodic nocturnal wanderings (ENW), the most prolonged ones, constitute nocturnal frontal lobe epilepsy (NFLE). PA are sudden awakenings associated with stereotyped dystonic-dyskinetic movements, sometimes accompanied by screaming and a frightened expression. ENW are episodes of agitated ambulation, with complex, sometimes violent, motor behavior and dystonic postures involving head, trunk and limbs. NPD, PA and ENW coexist in most patients. NFLE is predominant in males and usually begins during adolescence. A familial recurrence of parasomnias in NFLE patients is much more common than in the general population. Autosomal dominant inheritance has been documented in 6% of our cases. Few patients present personal antecedents or positive neuroradiological findings. Seizures are frequent, occurring every or almost every night, many times per night. Interictal wake and sleep EEG tracings are often normal and ictal epileptic activity is recorded in a relatively small number of cases. Carbamazepine controls or significantly reduces seizures in about 70% of cases; the remainder are drug-resistant. Videopolysomnographic recordings, showing stereotyped abnormal movements during attacks, are mandatory to confirm the diagnosis of NFLE.
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PMID:From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy. 1099 49

Nocturnal frontal lobe epilepsy (NFLE) has become clinically relevant in recent years. NFLE represents a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals, often recurring several times per night, sometimes with a quasi-periodic pattern, to more complex dystonic-dyskinetic seizures and to prolonged "somnambulic" behaviour. Episodes of increasing intensity have been labelled as paroxysmal arousal (PA), nocturnal paroxysmal dystonia (NPD) and episodic nocturnal wandering (ENW). NFLE affects both sexes with a higher prevalence for men, is frequently cryptogenetic and displays a strong familial trait for parasomnias and epilepsy (NFLE). Seizures appear more frequently between 14 and 20 years of age, but can affect any age and tend to increase in frequency during life. Interictal and ictal scalp electroencephalography (EEG) are often normal, the use of sphenoidal leads may be helpful. Carbamazepine taken at night is often effective at low doses, but a third of the patients are resistant to anti-epileptic drugs (AED) treatment. A familial form, characterized by an autosomal dominant transmission, has also been described. Autosomal dominant nocturnal frontal lobe epilepsy is a genetic variant of NFLE, in itself both clinically and biologically heterogeneous. NFLE should be suspected in the presence of frequent stereotyped paroxysmal nocturnal motor events arising or persisting into adulthood. Videopolysomnography is mandatory to confirm the diagnosis.
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PMID:The wide clinical spectrum of nocturnal frontal lobe epilepsy. 1253 Nov 76