Aceruloplasminemia
Aceruloplasminemia
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DOI：
10.32388/i9uig4
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发表时间：
2020-02
期刊：
影响因子：
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通讯作者：
Y. Hosoi;H. Miyajima
中科院分区：
文献类型：
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作者：
Y. Hosoi;H. Miyajima
患有紫纤浆蛋白血症的人会出现各种各样的运动问题。他们可能会经历头部和颈部的不随意肌肉收缩（肌张力障碍），导致重复运动和扭曲。其他不自觉的运动也可能发生，如有节奏的颤抖（震颤）、抽搐运动（舞蹈病）、眼睑抽搐（眼睑痉挛）和做鬼脸。受影响的个体也可能有协调困难（共济失调）。一些人在四五十岁时出现精神问题和智力功能下降（痴呆）。
People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Affected individuals may also have difficulty with coordination (ataxia). Some develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties.