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myoclonus (E-M), primary myoclonicdystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the SGCE gene were analysed. The DYT1 mutation was also tested. Sixteen index cases had SGCE mutations while one case with primary myoclonicdystonia carried the DYT1 mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations
and continuous rather than action-induced, carried a heterozygous stop mutation of the TITF-1 gene (Y114X, exon 2). (3) Three mutation-negative patients were grouped as "myoclonicdystonia" with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly-mini myoclonus of the upper limbs and pectoral muscles (D-PMM). In early
, generalized dystonia, and myoclonicdystonia, surface EMG signals were recorded from the most affected muscle groups. Although the dystonia affected different body segments, the EMG signals in all patients could be decomposed into bursting and sustained components. Subsequently, a ratio of the EMG amplitude was calculated between the two components and then correlated with clinical outcome. Patients who
Both thalamic and pallidal deep brain stimulation for myoclonicdystonia. Myoclonicdystonia is poorly managed with medication and may be severe enough to warrant surgical intervention. Surgery has targeted either the globus pallidus pars interna (GPi) or the thalamus, but there is no accepted target for this condition. The authors present the case of a 23-year-old man treated with unilateral
Lisuride in dystonia. Lisuride hydrogen maleate, 0.4 to 5 (mean, 3) mg/d, was given orally to 42 subjects with various types of dystonia. In seven of the eight patients who improved (one with segmental dystonia, one with myoclonicdystonia, two with spasmodic torticollis, two with cranial dystonia, and two with tardive dystonia), the response was confirmed by double-blind placebo substitution
Acute effect of transcutaneous electrical nerve stimulation on tremor. Based on the claims that transcutaneous electrical nerve stimulation is effective in myoclonicdystonia and essential tremor, we evaluated its acute effects in 5 patients with essential tremor and 2 patients with tremor attributed to peripheral neuropathy using as parameters the Washington Heights-Inwood Genetic Study
fixation in 3% glutaraldehyde, for SEM (n = 9) or TEM (n = 10), or both (n = 2), according to departmental protocol. The electrodes were sourced from two patients with Parkinson's disease, one with myoclonicdystonia, two with cervical dystonia and five with primary generalized dystonia, and had been in situ for 11 and 31 months (Parkinson's disease), 16 months (myoclonicdystonia), 14 and 24 months
Eating-induced facial myoclonicdystonia probably due to a putaminal lesion. Myoclonicdystonia is considered a form of dystonia. We present the unusual case of a 36-year-old woman with HIV infection, who developed left facial myoclonicdystonia, triggered by eating in the setting of probable progressive multifocal leukoencephalopathy involving the contralateral basal ganglia.
for movement disorders (n = 13 Parkinson's disease, n = 1 myoclonicdystonia, n = 1 spasmodic torticollis). HR and MAP increased during high frequency (> 90 Hz) electrical stimulation of the thalamus (HR 5 +/- 3 beats min(-1), P = 0.002, MAP 4 +/- 3 mmHg, P = 0.05, n = 9), subthalamic nucleus (HR 5 +/- 3 beats min(-1), P = 0.002, MAP 5 +/- 3 mmHg, P = 0.006, n = 8) or substantia nigra (HR 6 +/- 3 beats min
and one with a thalamic and striatopallidal lesion. One other patient presented with a myoclonicdystonia related to a thalamic lesion. The striatopallidal lesions were located in the sensorimotor area with a somatotopical distribution. The pure thalamic lesion involved the centromedian nucleus, the sensory nuclei, and the pulvinar whereas the thalamic and striatopallidal lesion was located
7q21 Myoclonicdystonia DYT12 128235 ATP1A3 19q12-q13.2 Rapid onset dystonia parkinsonism and alternating hemiplegia of childhood DYT13 607671 unknown, near D1S2667[8] 1p36.32-p36.13 Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family DYT14 See DYT5 DYT15 607488 unknown 18p11[9] Myoclonicdystonia not linked to SGCE mutations DYT16 612067 PRKRA 2q31.3 Autosomal recessive young onset dystonia