神经科罕见病大盘点！

2020-05-29 MedSci MedSci原创

罕见病，又称“孤儿病”，是指发病率极低的疾病。根据WHO的定义，罕见病是患病人数占总人口0.65&permil;～1&permil;的一类疾病的统称，其中80%以上属于遗传性疾

罕见病，又称“孤儿病”，是指发病率极低的疾病。根据WHO的定义，罕见病是患病人数占总人口0.65‰～1‰的一类疾病的统称，其中80%以上属于遗传性疾病，且90%的罕见病是严重性疾病。目前，全球已知的罕见病有近7000种，约占人类疾病总数的10%。由于临床上较少遇见此类疾病，且大多数的疾病累及多个器官和系统，而临床医生对于疾病本身及其可能带来的全身多器官的累及缺乏全面系统的了解，患者的就医、诊断和治疗常常面临极大的困难。在此对目前神经科的罕见病进行盘点，以期为神经科临床医生初步介绍一下与神经系统相关的罕见病。多巴反应性肌张力障碍（DRD）又称Segawa病，该疾病由日本学者Segawa于1976年首次描述。该病的起病年龄平均为6岁，起病越早，症状越重。典型症状为：在6岁左右以一侧下肢马蹄内翻足起病。10岁左右时，一侧上肢出现姿势性震颤，在之后的10-15年，姿势性震颤扩展至所有肢体，伴随肌张力障碍性肌强直的加重。随着肌张力障碍的进展，运动迟缓见于所有的患者。其临床特点为症状的昼间波动性，以及小剂量多巴制剂持续有效是其显著的临床特征。用药后所有症状包括易疲劳、肌张力障碍、姿势异常、震颤

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2024-01-01 ms5000001140735835 来自北京

#肌张力障碍#

55 0
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2024-01-01 ms5000001140735835 来自北京

#多巴反应性肌张力障碍#

49 0
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2021-06-04 ms1000002047318983

谢谢分享，收藏学习。

103 0
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2020-10-06 ms7000001505175733

值得学习

122 0
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2020-09-01 1232a1fem17(暂无昵称)

非常有用，感谢

127 0
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2020-05-31 12498f1em09(暂无昵称)

#神经科#

0 0
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2020-05-31 syscxl

#罕见#

63 0
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2020-05-29 lovetcm

罕见病越来越受重视，🐴🐴🐝

129 0

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