Blumkin, 2018: Overview of all reported CHOR-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
B
|
n.a.
|
2
|
15
|
No
|
Facial twitches
Muscular hypotonia Gait impairment Trigger: Stress Dyskinesia Paroxysmal dyskinesia -Motor Global developmental delay Dysarthria Chorea Trigger: Exercise Mild global developmental delay Myoclonus Show more (+10) |
Chorea
|