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)

Baclofen, a gamma-aminobutyric acid agonist, acts at the spinal cord level to impede the release of excitatory neurotransmitters that cause spasticity. Oral baclofen improves cerebral spasticity mildly, but its activity is limited because of its poor lipid solubility. Cerebrospinal fluid baclofen levels after intrathecal administration are many times higher than those achieved after oral administration. Continuous intrathecal baclofen infusion has been used to treat cerebral spasticity in two patient groups: in older ambulatory children with inadequate underlying leg strength, and in patients with severe spasticity in both the upper and lower extremities. Responsiveness to intrathecal baclofen is confirmed by test injections before insertion of a programmable subcutaneous pump. Continuous intrathecal baclofen infusion dosages vary from 27 to 800 micrograms/day. Continuous intrathecal baclofen infusion reduces spasticity in the upper and lower extremities, and improves upper extremity function and activities of daily living but has no effect on athetosis in the dosages used to treat spasticity. Complications related to the intrathecal catheter occur in approximately 20% of patients, and infection requiring pump removal occurs in approximately 5%. Preliminary studies indicate that continuous intrathecal baclofen infusion alleviates some forms of generalized dystonia associated with cerebral palsy.
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PMID:Baclofen in the treatment of cerebral palsy. 888 81

Tardive dyskinesia (TD) is a frequently occurring side effect of treatment with neuroleptic antipsychotic drugs. TD is a persistent and often irreversible syndrome characterized by abnormal movements, including lingual and orofacial dyskinesia, grimacing, tics, choreic movements of the limbs and trunk, and athetosis and dystonia. In some patients the muscles of respiration and speech may also be involved. There is no established treatment for TD.
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PMID:Antioxidant treatment of tardive dyskinesia. 888 27

The basal ganglia play important roles in the pathophysiology of various types of involuntary movement disorders, such as chorea, ballism, athetosis, dystonia, tremor and tics. These involuntary movements when occur in the childhood show the specific ages of onset and the courses. For example postural dystonia occurs in childhood but action dystonia tend to occur in later ages. Postural tremor occurs after the second decades but resting tremor does not occur in childhood. Furthermore drug induced dystonia but not levodopa induced dyskinesia occurs in childhood. The age dependent clinical features observed in these involuntary movements are thought to be due to the specific developmental processes of the pathway in the basal ganglia and its efferent projections, which are involved in the pathophysiology in the each disorder. For example, the dopamine activity is known to be increased in the striatum before ten years of age which decreases, rapidly during the first decade and further decreases in the next decade with the moderate degree till adult level. The direct pathway, which is predominant in the ventral area in the basal ganglia, matures earlier than the indirect pathway, which is predominant in the dorsal area. In this paper the pathophysiologies of the hereditary progressive dystonia with marked diurnal fluctuation, juvenile parkinsonism, idiopathic torsion dystonia, chorea, ballismus and tics, all of which occur in the childhood, are discussed from the view point of the age dependent specificities of the involved pathways in the basal ganglia and their projections during development.
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PMID:[The clinical characteristics of involuntary movements in childhood]. 914 24

Non-epileptic paroxysmal dyskinesias present with different forms of extrapyramidal hyperkinesias (dystonia, chorea, athetosis, ballism) in variable combinations and with cerebellar signs, respectively. They may be classified as: 1. paroxysmal dystonias/choreoathetoses (paroxysmal dystonic choreoathetosis = PDC), paroxysmal kinesigenic choreoathetosis = PKC, intermediate form) and 2. paroxysmal ataxias (PA) (PA with myokymia and neuromyotonia, azetazolamide-responsive PA). Nocturnal paroxysmal dystonia is now regarded as one form of nocturnal frontal lobe epilepsy. Research in molecular genetics has substantially contributed to the etiologic understanding of paroxysmal dyskinesias: In different families linkage has been successfully completed for PDC (chromosome 2q) and PA (chromosomes 12p, 19p). PA are now identified as channelopathies with mutations in the potassium channel (PA with myokymia and neuromyotonia) and the calcium channel gene (azetazolamide-responsive PA).
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PMID:[Non-epileptic paroxysmal movement disorders]. 975 15

We prospectively studied motor symptoms in 32 patients with CT- or MRI-proven acute pure parietal stroke. A transient, mild, 'pseudoparesis' of the hand (90%), was noted, improved by visual attention and prompting, associated with non-awareness of muscle power (53%), transient soft pyramidal signs (50%), unilateral akinesia (100%) and motor hemineglect (37%) in non-dominant lesions. Lower motoneurone-type atrophy was not observed in this acute phase. We called 'poikilotonia' the striking unpredictable variations in muscle tone, ranging from extreme hypertonia to hypotonia, found in all patients. When maintaining postures, patients showed large oscillations (100%), laterodeviation or levitation of the arm (60%), especially in the case of large or posterior lesions, or, occasionally (3%), motor persistence or even hemicatalepsy (3%). Limb kinetic and manipulatory apraxia, with inadequate organization and anticipation of motor sequences and synergies, motor arrests, perplexity, unrecognizable gestures and loss of bimanual coordination, was a constant finding (100%). Other apraxias (62%) and difficulty in copying intransitive gestures of the hand (84%) were associated with posterior lesions involving the supramarginal gyrus. When reaching towards objects, all patients showed abnormal anticipatory hand shaping, but visuomotor ataxia (3%) was only seen with bilateral posterior stroke. Sensory (70%) or pseudocerebellar (4%) ataxia, was seen in both anterior and posterior lesions. Avoidance behaviors (34%) were not uncommon, but had no localizing value. Of the dyskinesias, hand dystonia (84%) was frequent, but athetosis (16%), asterixis (15%), postural tremor (15%), myoclonus (9%) and stereotypia (9%), were uncommon. The abnormal eye movements were unilateral hypo-akinesia of exploratory saccades (43%), abnormal ipsilateral pursuit and contralateral optokinetic nystagmus in the case of posterior lesions, and oculomotor apraxia with bilateral posterior lesions. In conclusion, parietal motor syndrome can be recognized during bedside examination, and probably reflects the loss of multiple sensory feedback to motor programs, especially those directed to the extrapersonal space.
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PMID:Parietal motor syndrome: a clinical description in 32 patients in the acute phase of pure parietal strokes studied prospectively. 987 53

A 56 year-old patient, with a history of surgically removed breast cancer three years earlier, presented with incoordination of hand movements while playing piano. Neurological examination disclosed mild position sensory loss and limb-kinetic apraxia of the distal part of the right upper extremity. The most conspicuous neurological sign was a dystonic posturing of the right hand, which was only elicited when the patient outstretched her arms with the eyes closed. MRI revealed a metastatic lesion involving the left parietal cortex. The association of focal dystonic postures with lesions of the parietal association cortex indicates that dystonia may feature damage of brain cortical areas far from the basal ganglia. In addition, this provides support to the hypothesis that impairment of sensory pathways may play a role in the origin of some hyperkinetic movement disorders, such as dystonia and athetosis.
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PMID:Pseudodystonic hand posturing contralateral to a metastasis of the parietal association cortex. 1114 4

Although occurrence of involuntary movements after thalamic stroke has occasionally been reported, studies using a sufficiently large number of patients and a control population are not available. Between 1995 and 1999, the author prospectively identified 35 patients with post-thalamic stroke delayed-onset involuntary movements, which included all or some degree of dystonia-athetosis-chorea-action tremor, occasionally associated with jerky, myoclonic components. A control group included 58 patients examined by the author during the same period who had lateral thalamic stroke but no involuntary movements. Demography, clinical features and imaging study results were compared. There were no differences in gender, age, risk factors, side of the lesion and follow-up periods. During the acute stage of stroke, the patients who had involuntary movements significantly more often had severe (< or = III/V) hemiparesis (50 versus 20%, P < 0.05) and severe sensory loss (in all modalities, P < 0.01) than the control group. At the time of assessment of involuntary movements, the patients with involuntary movements significantly more often had severe sensory deficit (in all modalities, P < 0.01) and severe limb ataxia (60 versus 5%, P < 0.01) than the control patients, but neither more severe motor dysfunction (7 versus 0%) nor more painful sensory symptoms (57 versus 57%). The patients with involuntary movements had a higher frequency of haemorrhagic (versus ischaemic) stroke (63 versus 31%, P < 0.05). Further analysis showed that dystonia-athetosis-chorea was closely associated with position sensory loss, whereas the tremor/myoclonic movements were related to cerebellar ataxia. Recovery of severe limb weakness seemed to augment the instability of the involuntary movements. Persistent failure of the proprioceptive sensory and cerebellar inputs in addition to successful, but unbalanced, recovery of the motor dysfunction seemed to result in a pathological motor integrative system and consequent involuntary movements in patients with relatively severe lateral-posterior thalamic strokes simultaneously damaging the lemniscal sensory pathway, the cerebellar-rubrothalamic tract and, relatively less severely, the pyramidal tract.
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PMID:Delayed onset mixed involuntary movements after thalamic stroke: clinical, radiological and pathophysiological findings. 1115 57

Dystonia is an interesting disorder characterized by involuntary movement of the body part or parts leading to abnormal deformed postures. The usual signs and symptoms are local pain, spasm and abnormal movements. Sensory trick is an important clinical phenomenon and is characteristic of dystonia. It is usually separated from other movement disorders such as chorea, athetosis, tics and myoclonus clinically. Various non-dystonic conditions simulate dystonia and need to be separated in view of different line of management. Improved understanding in molecular biology has helped in understanding of the disease. Confusing neuropathology and neurochemistry have deterred the finding of an effective drug, however empirical use of few drugs have improved the gloomy situation. Few conditions such as dopa-responsive dystonia have definite treatment. Recently use of botulinum toxin has provided beneficial response in hyper muscular contraction states such as dystonia and spasticity, Surgery and other non-medical therapies are effective in few situations.
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PMID:A spectrum of dystonias-clinical features and update on management. 1127 44

Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases, n = 38), recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (+/- S.D.) age of Registry patients was 43 +/- 21 and that of literature was 38 +/- 17. In combined data set (n = 99), 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%, chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%. Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others.
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PMID:Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. 1129 78

Biological causes provoking dystonia can not be systematized, with the exception of the small group of levodopa-responsive dystonia. Therefore the pathophysiology of the dystonic syndrome can be approached by considering the site of the lesions. In 40 cases of uni or bilateral symptomatic dystonias, this site could be identified with CT Scan or MRI. Twenty-one were located in the striatum, six in the pallidum, seven in the thalamus, six in the midbrain. Each group is characterized by etiologic and clinical criteria, sometimes associated with abnormal movements. In the striatal group, the most important, dystonia was often associated by athetosis or choreoathetoid abnormal movements. In some cases, in children, lesions were vascular due to impairment of lenticulo-striatal arteries, often following cranial trauma. The pallidal lesions were usually provoked by metabolic or infectious agents. Most thalamic dystonias were of vascular origin, sometimes accompanied by myoclonia. Midbrain lesions were usually vascular with tremor. Athetosis occurred after striatal rarely after pallidal lesions. It is advisable not to assimilate dystonia and athetosis as both are simultaneously observed if the lesions are located in the striatum, rarely in the the pallidum but not in the midbrain.
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PMID:[Topography of secondary dystonia lesions]. 1147 62


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