读音:美英 dopa-responsive dystonia基本解释 多巴反应性肌张力障碍;性肌张力失常;多巴敏感性肌张力障碍 分词解释 dystonia(肌)张力失常 dopa-responsive dystonia是什么意思 dopa-responsive dystonia怎么读 dopa-responsive dystonia在线翻译 dopa-responsive dystonia中文意思 dopa-responsive dystonia的解释 dopa-responsive dy...
dopa-responsive dystoniaGTP cyclohydrolase Itetrahydrobiopterintyrosine hydroxylaseDYT14 dystoniaSynonyms Segawa syndrome; Dystonia 5; Hereditary progressive dystonia with marked diurnal fluctuation; HPD; DRD Definition and Characteristics DRD is a mostly autosomal dominant childhood onset dystonia characterized by ...
网络多巴反应性肌张力障碍 网络释义 1. 多巴反应性肌张力障碍 多巴反应性肌张力障碍(Dopa-responsive dystonia,DRD)是一种很少见的儿童起病的锥体外系、遗传性运动障碍性疾病,由于其 … doc.51daifu.com|基于22个网页
dopa-responsive dystonia Acronyms an autosomal dominant dystonia that begins in early childhood, manifested by dystonic posture of the limbs or neck, which respond dramatically to small doses of carbidopa-levodopa. Synonym(s):early childhood onset autosomal dominant dystonia ...
DRD-dopa-responsive dystoniaGTPCH-GTP cyclohydrolase IHPD-hereditary progressive dystoniaPET-positron emission tomographyPatient 1: A 6-year-old girl with gait disturbance was introduced by an orthopedist in 1990, before the discovery of causative genes in dopa-responsive dystonia (DRD). Although ...
多巴反应型肌张力障碍 5型(Dystonia 5, dopa-responsive type)是否需要检测才能真正确诊? 是的,多巴反应型肌张力障碍 5型需要进行特定的检测才能进行正确诊断。这种类型的肌张力障碍通常是由于多巴胺合成酶缺乏引起的,因此可以通过检测患者对多巴胺的反应来进行诊断。医生可能会要求进行脑部影像学检查、基因检测或其他相关...
Dopa-responsive dystonia(DRD)is a rare hereditary disease of motor disorders,with dystonia or gait abnormalities as its first symptom. 多巴反应性肌张力障碍是一种好发于儿童或青少年,以肌张力障碍或步态异常为首发症状的少见的遗传性运动障碍疾病,大部分呈常染色体显性遗传,少数呈常染色体隐性遗传,个别可呈散发...
Lauren A ArnoldPediatric ResearchHyland K, Arnold LA. Dopa-responsive dystonia, tyrosine hy- droxylase deficiency and aromatic L-amino acid decarboxylase deficiency: multifaceted diseases that can masquerade as cerebral palsy. Pediatr Res 1998;43:319A....
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Hence, a diagnosis of dopa-responsive dystonia (DRD) was made. DRD is an inherited disorder characterized by dystonia with diurnal variation and favorable response to levodopa/carbidopa. The inheritance is usually autosomal dominant, however, in some cases, autosomal-recessive inheritance is also seen...