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)

To investigate some of the pathophysiological mechanisms in cerebral palsy, surface electromyograms (EMG) were recorded from pairs of flexor/extensor muscles during both voluntary and passive flexion/extension of upper and lower limbs of 20 patients. Elbow, knee, or ankle joint angles were measured simultaneously, as well as the force required to flex/extend the limbs passively at frequencies of 0.1--1.0 Hz. In addition, single motor units were recorded from the first dorsal interosseous muscles of six of the patients. Almost all patients showed resistance to passive movements (hypertonia). This hypertonia did not necessarily impair voluntary flexion/extension movements if alternating EMG activity was maintained in at least one of the pairs of flexor/extensor muscles involved in the movement. In six severly involved patients, there was a complete breakdown in the reciprocal relationship between reciprocally acting pairs of flexor/extensor motoneurones, which resulted in synchronous activation (co-contractions) of flexor/extensor muscles during both voluntary and passive movements. In these patients the hyperactive segmental reflex added to the disabling effects of co-contractions during voluntary movements. Single motor units recorded from patients with dystonic movements were recruited with variable delays (2--10 s) and usually discharged intermittently at high frequencies (60--120/s). This abnormla motor unit discharge pattern may relate to pathology of the basal ganglia.
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PMID:Pathophysiological mechanisms in cerebral palsy. 47

This report describes an infant diagnosed aged twenty-five months as having glutaric aciduria Type 1 (GA 1). Initial presentation was with isolated macrocephaly at four months of age. Severe hypertonia, and dystonia, within 24 hours of minor head injury occurred at nineteen months of age. Serial cranial imaging showed subdural fluid collections, and increasing underlying cerebral atrophy, mainly frontal and temporal. Confirmation of the clinical diagnosis required repeated blood and urine analysis by high performance liquid chromatography and gas chromatography/mass spectrometry; diagnosis was later confirmed enzymologically. Treatment with riboflavin, L-carnitine, vigabatrin and baclofen, produced some symptomatic relief; a low protein diet, nitrazepam and sodium valproate appeared of less obvious use. The rationale for these attempts at treatment is discussed. The possible role of quinolinic acid in the genesis of the fronto temporal and striatal atrophy is discussed and measurement of the quinolinate concentration in cerebrospinal fluid (CSF) of this case and age-related controls is presented.
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PMID:Glutaric aciduria type 1 an atypical presentation together with some observations upon treatment and the possible cause of cerebral damage. 149 52

Movement is preceded, accompanied and followed by reactions which give to the primary action its correct execution and ensure that the body's axis, together with the limbs, maintains the right balance. If these reactions are interfered with, incoordination of movement, lack of balance, hypertonia or dystonia may all appear. In the case of dystonia, postural mechanisms tend to become dominant and take over from the kinetic component of movement. In the upper limbs, the dystonic posture follows patterns analogous to those used by monkeys for postural purposes. Thus, while the initial mechanisms of movement represent highly sophisticated processes thoroughly adapted to living in an upright state, the reactions that go with the movement are more primitive and probably have a less helpful role.
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PMID:The shadow of movement. 177 46

We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.
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PMID:Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. 229 84

Tardive dystonia in a chronic dystonia caused by neuroleptics. A 53-year-old man suffering from a neuroleptic induced dyskinesia began to show an abnormal posture. His abnormal posture was caused by changes of muscle tonus and thought to be a dystonic posture. He had no family history of dystonia. This posture was similar to that of idiopathic dystonia in that the muscle tonus was hypertonic in sitting but was hypotonic in lying, and in that the activity of daily living was not disturbed in spite of hypertonia. But he also showed lingual dyskinesia and hyperreflexia and the electromyographic analysis disclosed the fact that his dystonia was similar to that of secondary dystonia. Brain CT showed the atrophy of the head of caudate nucleus but superconducting MRI disclosed no abnormality in basal ganglia. No effective therapeutics was as yet found in tardive dystonia. So it was proposed that the tardive dystonia was due to irreversible functional damage to the basal ganglia.
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PMID:[A case of tardive dystonia]. 256 8

Reciprocal inhibition of H reflexes in the forearm flexor muscles was examined in a group of 16 patients with writer's and other occupational cramps. The early disynaptic phase of reciprocal inhibition was normal. However, there was a reduction in the amount of later, presynaptic inhibition, when compared with age-matched normal subjects. Similar findings were seen in 2 patients with symptomatic hemidystonia in whom structural brain lesions were present. However, this reduction in presynaptic inhibition was not specific to patients with dystonia. In a further group of 13 patients with hemiparesis or hemiplegia due to stroke, abnormalities of both early and later phases of reciprocal inhibition were found. The patients with spasticity exhibited less disynaptic inhibition than those with normal tone or flaccid limbs. The changes in the presynaptic phase of reciprocal inhibition did not correlate with the clinical signs of spasticity and increased muscle tone. These results provide objective evidence of a physiological basis for the action or task-specific focal dystonias such as writer's cramp.
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PMID:Reciprocal inhibition between forearm muscles in patients with writer's cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to stroke. 273 Oct 27

An elderly female patient had a two-year history of stereotyped spontaneous episodes of retropulsion, associated with head retraction, without loss of consciousness, hypertonia, dystonia, or atonia. Results of neurologic examination were normal. After removal of a right hemispheral cerebellar fibroblastic meningioma, the attacks were no longer observed. Attacks of retropulsion and cerebellar meningioma constitute an unusual clinical association.
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PMID:Attacks of retropulsion and cerebellar meningioma. 669 25

A 45-year-old woman with a history of probable perinatal craniocerebral trauma resulting in mild asymptomatic right hemiatrophy developed right leg weakness and hypotonia alternating with dystonia only after prolonged exertion at age 12. At age 27, she developed right-sided parkinsonism. Exertional paresis and dystonia and parkinsonism responded completely to levodopa; however, she developed a progressive reduction in the duration of action of levodopa over the first 4 years of treatment. Investigations including computed tomography, magnetic resonance imaging, [18F]fluorodopa, and [18F]fluorodeoxyglucose positron emission tomography scans suggested a static lesion involving the left substantia nigra. This unusual exertion-induced weakness and hypotonia alternating with hypertonia and dystonia has not been reported previously. The role of dopamine deficiency in dystonia and the role of levodopa in the development of fluctuations in Parkinson's disease are discussed. Review of the literature, including this patient, emphasizes the heterogeneity of the syndrome of hemiparkinsonism-hemiatrophy.
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PMID:Hemiatrophy, juvenile-onset exertional alternating leg paresis, hypotonia, and hemidystonia and adult-onset hemiparkinsonism: the spectrum of hemiparkinsonism-hemiatrophy syndrome. 756 31

Olanzapine is a thienobenzodiazepine derivative which displays efficacy in patients with schizophrenia and related psychoses. It has structural and pharmacological properties resembling those of the atypical antipsychotic clozapine and an improved tolerability profile compared with the classical antipsychotic haloperidol. In several large, well controlled trials in patients with schizophrenia or related psychoses, olanzapine generally 5 to 20 mg/day was at least as effective as haloperidol (5 to 20mg) and more so than placebo, as assessed by overall rating scales for psychoses. Olanzapine improved negative symptoms to a greater extent than haloperidol in 2 of 3 comparative trials, including the largest trial. Efficacy of olanzapine has a rapid onset (within 1 to 2 weeks). Its clinical benefits appear to be maintained for treatment periods of up to 1 year, as shown by analysis of the extension phase of several trials demonstrating decreased probability of hospitalisation over this period compared with haloperidol. Preliminary data suggest the drug may also improve quality of life. Olanzapine was associated with significantly fewer adverse movement disorders (e.g. akathisia, dystonia, hypertonia, extrapyramidal symptoms) than haloperidol. There have been no reports of agranulocytosis (as occurs with clozapine) or any other haemotoxicity attributed to olanzapine, and the drug has shown minimal effect on prolactin levels. Transient increases in levels of hepatic transaminases seem to be clinically important. The only events recorded more frequently during olanzapine than during haloperidol therapy were weight gain, dry mouth and increased appetite. Although the antipsychotic activity of olanzapine has been well demonstrated. Its efficacy in refractory schizophrenia and its place relative to other atypical antipsychotics remain to be determined. Nevertheless, if the long term tolerability profile of olanzapine is confirmed, the drug should provide a valuable therapeutic alternative in the management of schizophrenia and related psychoses.
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PMID:Olanzapine. A review of its pharmacological properties and therapeutic efficacy in the management of schizophrenia and related psychoses. 902 46

Botulinum toxin (BTX) injection is considered the treatment of choice for patients with cervical dystonia (torticollis). We conducted a pilot, open-label, dose-escalation study with BTX type B in 12 patients who no longer responded clinically to injections with BTX type A. At the doses tested, BTX type B was safe and well tolerated without evidence of dose-limiting toxicity in this patient population. Mild-to-moderate adverse events generally resolved quickly and included asthenia, pain, nausea, dysphagia, hypertonia, and tremor. No serious adverse events or antibodies to type-B treatment were reported. Low-dosing-session (100-899 units) and high-dosing-session (900-1,500 units) groups were defined based on units administered per dosing session. Toronto Western Spasmodic Torticollis Rating Scale-Severity Scale (TWSTRS-Severity), Patient Analogue Pain Scale, and Physician and Patient Global Assessment Scales were measured during this study. The TWSTRS-Severity mean maximum percent improvement from baseline demonstrated a 9.9% versus 28.8% difference between the low-dose and high-dose groups, respectively. EFfectiveness was noted for the high-dose group on the Patient Analogue Pain Scale but not on the Global Assessment Scales.
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PMID:BotB (botulinum toxin type B): evaluation of safety and tolerability in botulinum toxin type A-resistant cervical dystonia patients (preliminary study). 938 65


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