| Autor: |
Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Meng-Han Tsai |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2524-3489 |
| DOI: |
10.1186/s42466-022-00204-w |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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