Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377057 | PMC |
| http://dx.doi.org/10.1186/s42466-022-00204-w | DOI Listing |
Publication Analysis
Top Keywords
adcy5-related dyskinesia
8
dyskinesia case
4
case report
4
report adenylyl
4
adenylyl cyclase
4
cyclase adcy5
4
adcy5 dyskinesia
4
dyskinesia rare
4
rare disorder
4
disorder characterized
4