与基底节病变相关的特发性扭转性肌张力障碍。
Idiopathic torsion dystonia associated with lesions of the basal ganglia.
作者信息
PeBenito R, Ferretti C, Chaudary R R, Woodrow P K
出版信息
Clin Pediatr (Phila). 1984 Apr;23(4):232-5. doi: 10.1177/000992288402300410.
PMID:6697632
Abstract
We report two siblings who are suffering from a dystonic syndrome, clinically indistinguishable from idiopathic torsion dystonia (dystonia musculorum deformans) but with cranial computerized tomographic scan findings of basal ganglia lesions, similar to that reported in Wilson's disease. The occurrence of the disorder in the same sibship suggests an autosomal recessive mode of inheritance and may represent another variety of the syndrome of idiopathic torsion dystonia.
摘要
我们报告了两名患有肌张力障碍综合征的兄弟姐妹，其临床表现与特发性扭转性肌张力障碍（变形性肌张力障碍）无法区分，但头颅计算机断层扫描结果显示基底节病变，类似于威尔逊病的报告。同一家庭中出现这种疾病提示为常染色体隐性遗传模式，可能代表特发性扭转性肌张力障碍综合征的另一种类型。
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