腺苷酸环化酶5相关运动障碍：一例报告
ADCY5-related dyskinesia: a case report.
作者信息
Chen Shih-Ying, Ho Chen-Jui, Lu Yan-Ting, Lin Chih-Hsiang, Tsai Meng-Han
机构信息
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Niaosung District, 123 Dapi Road, Kaohsiung, 83301, Taiwan.
Medical School, College of Medicine, Chang Gung University, Taoyuan City, Taiwan.
出版信息
Neurol Res Pract. 2022 Aug 15;4(1):39. doi: 10.1186/s42466-022-00204-w.
Abstract
Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.
摘要
腺苷酸环化酶5（ADCY5）相关运动障碍是一种罕见疾病，其特征为早发性阵发性舞蹈手足徐动症、肌张力障碍、肌阵挛或上述症状的组合，主要累及四肢、面部和颈部。其他常见临床特征为轴性肌张力减退和运动障碍的发作性加重。散发性和遗传性病例均有报道，主要遗传方式为常染色体显性遗传。在此，我们描述台湾首例ADCY5相关运动障碍患者。
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