ADCY5-related dyskinesia: a case report

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 exacerbati...

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Detalles Bibliográficos
Autores principales: Chen, Shih-Ying, Ho, Chen-Jui, Lu, Yan-Ting, Lin, Chih-Hsiang, Tsai, Meng-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377057/
https://www.ncbi.nlm.nih.gov/pubmed/35965335
http://dx.doi.org/10.1186/s42466-022-00204-w
Descripción
Sumario: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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