11/761. 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. ( info) |
12/761. 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. ( info) |
| Acute dystonia is a dramatic form of extrapyramidal side effects of antipsychotic medications. Although extrapyramidal reactions have been noted in related drugs, there are no existing reports associated with ranitidine. This report describes a case of an acute dystonic reaction secondary to a commonly prescribed, currently approved over-the-counter drug, ranitidine. ( info) |
14/761. Transient globus pallidus T1 shortening associated with polycythaemia and dystonia. We report a child who concurrently developed polycythaemia, dystonia, and T1 shortening in the globus pallidus, medial cerebral peduncle and superior cerebellar peduncles on MRI. With spontaneous resolution of the polycythaemia after about 2 1/2 years, the dystonia and MRI abnormalities also resolved. Although the physiological cause of the T1 shortening is not known, this appears to be another cause of T1 shortening in the basal ganglia. ( info) |
15/761. dystonia as a presenting feature of the 3243 mitochondrial dna mutation. A variety of neurologic phenotypes have been described in patients with mitochondrial disorders. We report a 32-year-old man in whom dystonia was the salient and presenting feature of a mitochondrial dna mutation. He presented at age 23 with writer's cramp and progressed over 5 years to exhibit dystonia in facial muscles and lower limbs. He also has exercise intolerance, mild, bilateral ptosis, proximal muscle weakness, and sensorineural hearing loss. Molecular genetic analysis of blood, urine, and muscle biopsy demonstrated the presence of a heteroplasmic point mutation at nucleotide position 3243. The 3243 mtDNA mutation has pleomorphic manifestations, and dystonia should be added to the list of associated clinical features. ( info) |
16/761. Atypical and typical cranial dystonia following dental procedures. It is generally recognized that focal dystonia of the limbs or cervical region and blepharospasm sometimes follow, and in these cases may be caused or triggered by, peripheral injury. However, the association between peripheral injury and lower cranial dystonia is rare. We report eight cases who developed cranial dystonia within hours to months following a dental procedure. One group of five cases, all women, developed atypical dystonia associated with painful paresthesias at the site of dystonia. Two of these five cases had fixed jaw-deviating dystonia, whereas the remaining three had additional tremor and spread of their dystonia to involve the tongue in all three, and the lips and neck in two cases. These five patients are reminiscent of cases of limb causalgia-dystonia syndrome, which occurs after minor peripheral trauma and can spread. The remaining three cases developed more typical cranial dystonia following the dental procedure. There was no family history of dystonia or prior use of neuroleptics in any of the patients. The close association in time and location of the procedure and onset of symptoms suggests that the onset of the dystonia may have been caused by the dental intervention, but whether there is a causal relationship between the dental intervention and the development of the dyskinesias requires further epidemiologic studies. ( info) |
| The objective of this paper was to evaluate the efficacy of diphenhydramine hydrochloride (DPH) in dystonic patients. In 1995, Truong et al reported encouraging results in five patients with idiopathic torsion dystonia (ITD) treated with DPH, an H1 antagonist with sedative and anticholinergic properties. Five patients with generalized ITD, one with secondary generalized dystonia and one with idiopathic segmental dystonia were included in the prospective study. Initially the response to intravenous administration of DPH versus placebo in two sessions a week apart was evaluated. Two weeks later all patients started oral DPH in increasing doses (range 100-300 mg, mean 164 mg). The degree of dystonia was determined by a modified University of Columbia Scale evaluating the baseline score, after placebo and DPH I.V. administration then at one and six months after starting oral treatment. The results were analyzed by Friedman's test for repeated measurements. On comparing scores for baseline severity, I.V. placebo and I.V. DPH presented a highly significant correlation (12.09; p = 0.00) as well as comparing baseline score with oral DPH at one and 6 months, treatment (12.78; p = 0.00). Functional score results were 9.5 p = 0.01 and 8.4 p = 0.02 at one and 6 months respectively. The most common side effects were somnolence and dizziness. It can be concluded that DPH proved effective in our patients with mild to moderate adverse effects not requiring drug withdrawal in any case. However, I.V. challenge was unable to predict the long-term response to oral medication perhaps due to the limited number of cases. ( info) |
18/761. From off-period dystonia to peak-dose chorea. The clinical spectrum of varying subthalamic nucleus activity. The effect of chronic bilateral high-frequency stimulation of the subthalamic nucleus (STN) on levodopa-induced dyskinaesias was investigated in eight patients with fluctuating Parkinson's disease complicated by functionally disabling off-period dystonia. All of the patients also had severe diphasic and peak-dose chorea, so that it was possible to study the effect of high-frequency stimulation on the different types of levodopa-induced dyskinaesias. Off-period fixed dystonia was reduced by 90% and off-period pain by 66%. After acute levodopa challenge, high-frequency stimulation of the STN reduced diphasic mobile dystonia by 50% and peak-dose choreic dyskinaesias by 30%. The effect of bilateral high-frequency stimulation of the STN on the Unified Parkinson's disease Rating Scale motor score had the same magnitude as the preoperative effect of levodopa. This allowed the levodopa dose to be reduced by 47%. The combination of reduced medication and continuous high-frequency stimulation of the STN reduced the duration of on-period diphasic and peak-dose dyskinaesias by 52% and the intensity by 68%. Acute high-frequency stimulation of the STN mimics an acute levodopa challenge, concerning both parkinsonism and dyskinaesias, and suppresses off-period dystonia. Increasing the voltage can induce repetitive dystonic dyskinaesias, mimicking diphasic levodopa-induced dyskinaesias. A further increase in voltage leads to a shift from a diphasic-pattern dystonia to a peak-dose pattern choreodystonia. Chronic high-frequency stimulation of the STN also mimics the benefit of levodopa on parkinsonism and improves all kinds of levodopa-induced dyskinaesias to varying degrees. Off-period dystonia, associated with neuronal hyperactivity in the STN is directly affected by stimulation and disappears immediately. The effect of chronic high-frequency stimulation of the STN on diphasic and peak-dose dyskinaesias is more complex and is related directly to the functional inhibition of the STN and indirectly to the replacement of the pulsatile dopaminergic stimulation by continuous functional inhibition of the STN. Chronic high-frequency stimulation of the STN allows a very gradual increase in stimulation parameters with increasing beneficial effect on parkinsonism while reducing the threshold for the elicitation of stimulation-induced dyskinaesias. In parallel with improvement of parkinsonism, the levodopa dose can be gradually decreased. As diphasic dystonic dyskinaesias are improved to a greater degree than peak-dose dyskinaesias, both direct and indirect mechanisms may be involved. Peak-dose choreatic dyskinaesias, associated with little evidence of parkinsonism and thus with low neuronal activity in the STN, are improved, mostly indirectly. Fixed off-period dystonia, mobile diphasic dystonia and peak-dose choreodystonia seem to represent a continuous clinical spectrum reflecting a continuous spectrum of underlying activity patterns of STN neurons. ( info) |
19/761. 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. ( info) |
20/761. Generalised muscular weakness after botulinum toxin injections for dystonia: a report of three cases. Three patients are reported on who developed transient generalised weakness after receiving therapeutic doses of botulinum toxin for cervical dystonia (one case) and symptomatic hemidystonia (two cases) respectively. Clinical and electrophysiological findings were in keeping with mild botulism. All patients had received previous botulinum toxin injections without side effects and one patient continued injections without recurrence of generalised weakness. The cause is most likely presynaptic inhibition due to systemic spread of the toxin. patients with symptomatic dystonia may be more likely to have this side effect and botulinum toxin injections in these patients should be carried out cautiously. ( info) |