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)

Two hundred consecutive patients affected by essential tremor (ET), referred to the Movement Disorders Center of the University of Bologna between January 1977 and December 1981, were studied to identify the different clinical features of this disorder, and its associated neurological signs. In this series, 169 patients suffered from typical essential tremor (TET); in the other 31 cases uncommon clinical features were detected: 25 presented postural, action and rest tremor (continuous tremor: CT); 5 had orthostatic tremor (OT) and 1 was affected by writing tremor (WT). Buccolinguofacial dyskinesias (BLFD) were associated with ET in 19 cases; 2 presented dystonia, and in 6 mild extrapyramidal signs were detected. Uncommon types of tremor: ET plus BLFD and ET associated with extrapyramidal signs had an higher incidence in older people. No patient developed Parkinson's disease (PD) during the follow-up period (2-5 years).
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PMID:Different clinical features of essential tremor: a 200-patient study. 357 75

Muscular deficit, voluntary movement disorders, abnormal movements, and global disturbance of movements are considered. A muscular deficit is part of the Dejerine-Roussy syndrome. It appears as hemiparesis, regressive within days or weeks. A juxta-thalamic capsular involvement can be considered as the origin of this deficit in most cases, especially in hemorrhagic processes even if these are located within the thalamus, on account of mass effect. The occurrence of paresis or paralysis in ischemic processes strictly situated in the thalamus, however, is discussed: the deficit may be limited to parts of limbs; most often, it is not associated with pyramidal symptomatology; recovery is observed in the hand before the inferior limb. To these anatomoclinical facts some data from animal experiments or thalamic stereotaxic surgical procedures in humans must be added. A deafferentiation from the cortex seems to be the main cause of these motor disturbances. Three types of voluntary movement disorders may be encountered: contralateral cerebellar incoordination due to the involvement of the nucleus ventrooralis posterior where the superior cerebellar peduncle ends; homolateral imitative syncinesias, not confined to thalamic lesions, but frequently observed in this location with a particular aspect; contracture. Abnormal movements include choreoathetosic movements, and exceptionally intention and action tremor, and asterixis. They primarily involve the superior limb, but reported cases are not associated with thalamic limited lesions. Global disturbance of movements is observed in the hand or gait. "Thalamic hand" consists of incessant finger movements in the vertical and horizontal planes. They are associated with thalamic dystonia and deep sensibility disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Motor symptomatology of the thalamus]. 378 43

Cannabidiol (CBD), a nonpsychoactive cannabinoid of Cannabis, was given to 5 patients with dystonic movement disorders in a preliminary open pilot study. Oral doses of CBD rising from 100 to 600 mg/day over a 6 week period were administered along with standard medication. Dose-related improvement in dystonia was observed in all patients and ranged from 20 to 50%. Side-effects of CBD were mild and included hypotension, dry mouth, psychomotor slowing, lightheadedness, and sedation. In 2 patients with coexisting Parkinsonian features, CBD at doses over 300 mg/day exacerbated the hypokinesia and resting tremor. CBD appears to have antidystonic and Parkinsonism-aggravating effects in humans.
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PMID:Open label evaluation of cannabidiol in dystonic movement disorders. 379 81

We studied seven patients with AIDS or AIDS-related complex (ARC) and movement disorders. Three had hemichorea-ballismus, two had segmental myoclonus, one had postural tremor with dystonia, and one had paroxysmal dystonia. Besides the hyperkinesias, two patients had parkinsonism, and one had cerebral Whipple's disease. In two, the movement disorder preceded other evidence of AIDS; in three others, the diagnosis of AIDS was not considered until there was a movement disorder. The movement disorders were attributed to toxoplasmosis in four patients (one confirmed at autopsy), viral encephalitis, vacuolar myelopathy, and CNS Whipple's disease.
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PMID:Movement disorders and AIDS. 379 36

Thirty-one patients with Wilson's disease were evaluated with detailed neurologic and medical examinations. Mean age (+/- SD) at onset was 21 +/- 5 years and at examination was 28 +/- 6 years. Of the 90% of patients who were first treated with penicillamine, 31% deteriorated initially despite therapy, and half never recovered to pretherapy baseline. At the time of our evaluations, the most common neurologic findings were dysarthria (97%), dystonia (65%), dysdiadochokinesia (58%), rigidity (52%), gait and postural abnormalities (42%), and tremor (32%). Chorea and dementia were rare. Twenty-two patients underwent magnetic resonance imaging. All but one of the 19 symptomatic patients had abnormal scans. The three asymptomatic patients had normal scans. Most lesions were seen in the caudate, putamen, subcortical white matter, midbrain, and pons. Generalized brain atrophy was also common. Lesions were less common in the thalamus, cerebellar vermis, midbrain tegmentum, globus pallidus, red nucleus, and dentate nucleus. Dystonia and bradykinesia correlated with putamen lesions, and dysarthria correlated with both putamen and caudate lesions.
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PMID:Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. 382 91

Eleven cases of "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy" were first reported by Imai in 1980. Three cases were added by Hayashi and Hayashi (1983). However there have been so far no autopsy cases, remaining the nosological position of this syndrome uncertain. The authors have had an opportunity of observing the third case in the report by Hayashi and Hayashi for 8 years and autopsy was done as well. Case report The patient was a female farmer. On account of postural-reflex troubles, the pulsion phenomenon and feet freezing, which had progressed since the age of 54, she easily tumbled over. Eight years after the beginning of those symptoms, vertical oculomotor palsy, pseudobulbar palsy and dementia were added; she was diagnosed as a progressive supranuclear palsy. Before this diagnosis, her illness was being regarded as "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy". Neck dystonia was not observed even in the terminal stage. She died at the age of 65. The total clinical course was about 11 years. Pathological observation The brain weighed 1,170 g before fixation. Marked atrophy of the subthalamic nucleus, globus pallidus and pontine tegmentum was observed. The substantia nigra was shown to be severely depigmented. Microscopically, loss of neurons and gliosis were seen in the subthalamic nucleus, globus pallidus, substantia nigra, hypothalamus, superior colliculus, central grey matter, brain stem reticular formation, cerebellar dentate nucleus, etc. The characteristic finding was the appearance of neurofibrillary tangles in these regions.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of progressive supranuclear palsy showing "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy (Imai)"]. 382 55

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.
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PMID:Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. 396 11

Two siblings with hemolytic anemia caused by triosephosphate isomerase deficiency developed a progressive neurological syndrome featuring dystonic movements, tremor, pyramidal tract signs, and evidence of spinal motor neuron involvement. Intelligence was unaffected. The findings in these patients and in 14 previously published cases indicate that neurological manifestations are an integral part of the disorder and suggest that specific structures in the basal ganglia, brainstem, and spinal cord bear the brunt of the pathological process, which does not affect the cerebral cortex.
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PMID:Neurological findings in triosephosphate isomerase deficiency. 400 68

Four patients with primary writing tremor had a focal, task-specific tremor that responded to anticholinergic drugs. Physiologic features included EMG activity alternating in antagonist muscles, 5- to 20-microV cerebral potentials evoked by stretch of pronator teres, and no C-reflexes. Another patient had myoclonic jerks of the forearm on attempts to write ("myoclonic writer's cramp") that also responded to anticholinergic drugs; EMG activity appeared synchronously or alternating in antagonist muscles. These disorders have features of dystonia and enlarge the spectrum of writer's cramp.
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PMID:Primary writing tremor and myoclonic writer's cramp. 402 90

Spastic dysphonia is a clinical speech disorder characterized by spasms of the laryngeal muscles during phonation, producing a broken pattern of speech sometimes termed laryngeal stuttering. Fourteen patients with the diagnosis of spastic dysphonia based on voice quality were referred for evaluation; detailed clinical and electrophysiologic evaluations were performed. Laryngeal electromyographic (EMG) testing failed to demonstrate any spontaneous activity in the 14 patients tested. Seven patients (50%) had normal number and amplitude of motor unit potentials. Four of these had disparate amplitudes when compared with the other side, and two had complex motor unit potentials. The other seven patients (50%) had abnormal findings, including three patients with abnormally increased amplitude. Two patients had asynchronous activity characteristic of a tremor disorder. One patient had synchronous bursts of activity also affecting the diaphragm, later diagnosed as pyramidal and extrapyramidal disease. One patient had bursts of activity, and later presented with diffuse myoclonus. Laryngeal EMG therefore seemed to be a more precise way of evaluating patients presenting with a tremulous voice pattern termed spastic dysphonia. Clinical observation and EMG data demonstrated that spastic dysphonia is not a "spastic" disease. We identified patients with tremor (2), pyramidal and extrapyramidal disease (1), and myoclonic disorders (1). The remainder of the patients had clinical and EMG findings consistent with dystonia, a neurologic disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms. We classify these patients as having "focal laryngeal dystonia" when the disorder occurs in isolation. It may also present as a component of a generalized dystonic syndrome.
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PMID:Electromyographic findings in focal laryngeal dystonia (spastic dysphonia). 407 37


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