نتایج جستجو برای: choreoathetosis
تعداد نتایج: 1147 فیلتر نتایج به سال:
The classification, clinical and electrophysiological characteristics, treatment outcome and pathogenesis of paroxysmal dyskinesia were summarized and analyzed. Paroxysmal dyskinesia was classified into three types. Different types had different incentives in clinical practice. Patients were mostly male adolescents, and the attacks, which were in various forms, manifested as dysmyotonia of chor...
We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidism type Ib. This diagnosis was confirmed by genetic testing, which identified...
Crigler-Najjar syndrome type I is an autosomal recessive inherited disease and rarely seen in childhood. Bilirubin neurotoxicity is the morbidity of the disease due to the elevated unconjugated bilirubin levels. Mental retardation, seizures, cognitive dysfunction, oculomotor nerve palsy, ataxia, choreoathetosis, and spasticity may be seen. Due to the high bilirubin levels, alterations in the ne...
BACKGROUND Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that occur spontaneously while at rest and following caffeine or alcohol consumption. Previously, we and others identified a locus for autosomal dominant PDC on chromosome 2q33-2q35. OBJECTIVE To identify the PDC gene. DESIGN Analysis of PDC positional candidate genes by exon sequencing...
1. Cardoso F, Seppi K, Mair KJ, et al. Seminar on choreas. Lancet Neurol 2006;5:589-602. 2. Nagaoka T, Matsushita S, Nagai Y, Kobayashi K. A woman who trembled, then had chorea. Lancet 1998;351:1326. 3. Ristić AJ, Svetel M, Dragaševic N, et al. Bilateral choreaballism associated with hyperthyroidism. Mov Disord 2004;19: 982-983. 4. Heoffron W, Eaton RP. Thyrotoxicosis presenting as choreoatheto...
OBJECTIVE To report 14 patients with immune-mediated relapsing symptoms post-herpes simplex encephalitis (HSE) and to compare the clinical and immunologic features of the teenage and adult group with those of young children. METHODS Prospective observational study of patients diagnosed between June 2013 and February 2015. Immunologic techniques have been reported previously. RESULTS Among t...
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