1/271. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
2/271. Osmotic demyelination syndrome with two-phase movement disorders: case report.Osmotic demyelination syndrome (ODS) is characterized by regions of demyelination throughout the brain, which are most prominent in the pons. This demyelinating disease is associated with electrolyte disturbances and typically occurs in patients who are alcoholic or malnourished. movement disorders are not frequently recognized in patients with ODS. This report describes a 22-year-old woman with ODS after correction of profound hyponatremia. The main neurologic symptom was two-phase movement disorder. First, she had acute onset dystonia, then the movement disorder transformed to generalized rigidity and tremors in the delayed second phase. magnetic resonance imaging in the first phase revealed demyelinating lesions in the central pons, bilateral thalami and basal ganglia. In the second phase, the previous myelinolysis had been partially resolved. The clinical course of the two-phase movement disorder did not correlate with the resolving feature of neuroradiologic findings. During the second-phase movement disorder, the patient had a good response to propranolol and trihexyphenidyl.- - - - - - - - - - ranking = 217.6237144599keywords = movement disorder, movement (Clic here for more details about this article) |
3/271. trihexyphenidyl in posthemorrhagic dystonia: motor and language effects.trihexyphenidyl has been found to be an effective treatment for dystonic movement disorders, improving gross motor function in patients with axial and torsional dystonia, tremors, and myoclonus. In this report, improvements in fine motor control, language, and oral motor skills are described with trihexyphenidyl in an 8-year-old female who developed dystonia after spontaneous bilateral putamenal hemorrhages. No adverse side effects occurred. The mechanism of action of trihexyphenidyl is believed to be in the basal ganglia where it inhibits muscarinic cholinergic receptors and increases the turnover of dopamine.- - - - - - - - - - ranking = 27.202964307487keywords = movement disorder, movement (Clic here for more details about this article) |
4/271. Benefit of bilateral pallidotomy in the treatment of generalized dystonia. Case report.This 29-year-old man with cerebral palsy complicated by generalized dystonia was treated by simultaneous bilateral posteroventral pallidotomy. Postoperatively, there was slow, but steady, improvement in the patient's dystonia and disability. However, the improvement in abnormal movements was only prominent for cervical dystonia and oromandibular dyskinesia. The patient's Burke-Fahn-Marsden dystonia scores were 51 preoperatively and 37, 33.5 and 33.5, at 3, 6, and 12 months postoperatively, respectively, demonstrating a maximum improvement of 34%. These results suggest that pallidotomy can be an alternative therapy for those patients suffering from intractable generalized dystonia.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
5/271. Phenotypic variability of the DYT1 mutation in German dystonia patients.Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early-onset primary dystonia was described. Here we report 2 German families and 1 sporadic patient with early-onset dystonia due to the DYT1 mutation in order to illustrate the variability of clinical manifestation within this molecularly defined entity. We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia.- - - - - - - - - - ranking = 28.202964307487keywords = movement disorder, movement (Clic here for more details about this article) |
6/271. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36. OBJECTIVE: To study the first Japanese family with PDC clinically and genetically. patients AND methods: We studied a large Japanese family in which at least 17 members in 6 generations have been affected by PDC. We interviewed and examined 26 family members, 8 of whom revealed choreoathetosis-like and dystonialike involuntary movement and 1 of whom revealed no involuntary movement but only muscle stiffness such as the aura of paroxysmal dystonic choreoathetosis (PDC). genetic linkage studies of this family were carried out with polymorphic dna markers. RESULTS: The attacks of involuntary movement or muscle stiffness were precipitated by ovulation, menstruation, emotional stress, or caffeine or alcohol ingestion. magnetic resonance imaging of the brain revealed no abnormalities. clonazepam therapy was effective for reducing the attacks, and ingestion of garlic was believed by patients to be effective for softening the attacks. An affected woman with only muscle stiffness showed remission after hysterectomy for hysteromyoma. This woman also had the disease haplotype and transferred it to her typical PDC-affected daughter. Maximal pairwise logarithm of odds scores exceeding 2.00 were obtained at D2S2250, D2S1242, D2S377, D2S2148, and D2S126. The PDC gene was demonstrated by linkage analyses to be located in a 15.3-centimorgan interval lying between D2S371 and D2S339 based on pairwise and multipoint logarithm of odds scores and obligate recombination events in affected individuals. CONCLUSIONS: Linkage of PDC to chromosome 2q32-36 was confirmed in a Japanese family. The clinical characterizations of this family with PDC include that ovulation seems also to be a precipitating factor of the attacks and that hysterectomy seems to be effective for softening the attacks. Although low-dose clonazepam treatment was most effective, garlic use was believed by affected members to be effective for softening the attacks. Furthermore, based on the results of clinical and genetic analyses, we suggest that muscle stiffness without involuntary movement may represent a forme fruste of PDC.- - - - - - - - - - ranking = 31.202964307487keywords = movement disorder, movement (Clic here for more details about this article) |
7/271. Neuronal activity in the basal ganglia in patients with generalized dystonia and hemiballismus.Microelectrode recording was performed in the basal ganglia of 3 patients with generalized dystonia and 1 patient with hemiballismus secondary to a brainstem hemorrhage. Neuronal activity was recorded from the internal and external segments of the globus pallidus and assessed for mean discharge rate and pattern of spontaneous activity. The responses of neurons in the internal segment of the globus pallidus to passive and active movements were also evaluated. Mean discharge rates of neurons in both segments of the pallidum in patients with dystonia and the patient with hemiballismus were considerably lower than those reported for patients with idiopathic Parkinson's disease. In addition, the pattern of spontaneous neuronal activity was highly irregular, occurring in intermittent grouped discharges separated by periods of pauses. Although receptive fields in the dystonia patients were widened and less specific than those reported in normal monkeys, neuronal responses to movement were uncommon in the hemiballismus patient. Before surgery, patients with dystonia experienced abnormal posturing and involuntary movements. Coactivation of agonist-antagonist muscle groups was observed both at rest and during the performance of simple movements. After pallidotomy there was a significant reduction in the involuntary movement associated with these disorders and a more normal pattern of electromyographic activity during rest and movement. Given the improvement in dystonic and hemiballistic movements in these patients after ablation of the sensorimotor portion of the internal segment of the globus pallidus, we suggest that pallidotomy can be an effective treatment for patients with dystonia and also for patients with medically intractable hemiballismus. Based on the finding of decreased neuronal discharge rates in pallidal neurons, we propose that physiologically dystonia most closely resembles a hyperkinetic movement disorder. A model for dystonia is proposed that incorporates the observed changes in the rate and pattern of neuronal activity in the pallidum with data from neuroimaging with positron emission tomography and 2-deoxyglucose studies.- - - - - - - - - - ranking = 34.202964307487keywords = movement disorder, movement (Clic here for more details about this article) |
8/271. Syringomyelic dystonia and athetosis.Two patients with movement disorders associated with syringomyelia are described, one of whom developed unusual torticollis, and the other had choreoathetoid-dystonic movements of the hand and arm. In each case, the movements resolved with decompression of the syrinx. The literature is reviewed and possible mechanisms explored.- - - - - - - - - - ranking = 34.76291712693keywords = movement disorder, torticollis, movement (Clic here for more details about this article) |
9/271. Use of clonazepam in an elderly bipolar patient with tardive dyskinesia: a case report.Tardive dyskinesia (TD) is an adverse effect of long-term neuroleptic use. An effective treatment for TD is needed, especially if chronic neuroleptic therapy is indicated. The treatment of TD in the elderly is not well established. We present here the case of an 81-year-old male with TD who had a significant reduction in dyskinetic and dystonic movements when treated with clonazepam.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
10/271. Bilateral segmental dystonia in a professional tennis player.Dystonias occur frequently as repetitive movements, persistent elevations of muscle tone, or tonic contortions, whereby the cause is assumed to be an impairment of basal ganglia function. Focal dystonias are especially known in musicians, although little is reported on focal dystonias in athletic stress. The present case report describes the case of a 34-yr-old professional tennis player with bilateral segmental dystonia. The symptoms were expressed in involuntary movements when he intended to hit the ball and in a progredient tremor, initially in one hand, later in both, making him unable to write. The altered mobility during athletic stress was confirmed by video analysis, the altered innervation with excessive, uncoordinated impulse influx by means of electromyography during sport-type specific stress, and writing incapacity during a writing test. The symptoms abated under therapy with trihexyphenidyl-HCL, so that the patient has been able to work as a tennis coach with improved athletic performance for the past 3 yr. It is concluded that the various forms of dystonia should be included in the differential diagnosis of impaired coordinative movements under athletic exercise, especially of the upper extremities.- - - - - - - - - - ranking = 3keywords = movement (Clic here for more details about this article) |
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