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Published on: October 4, 2021
ADCY5-related dyskinesia: a case report
Shih-Ying Chen1, Chen-Jui Ho1, Yan-Ting Lu1
1Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Niaosung District, 123 Dapi Road, Kaohsiung, 83301, Taiwan.
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.
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