Blumkin, 2018: Overview of all reported MxMD-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
|
Mild global developmental delay
Myoclonus Global developmental delay Facial twitches Paroxysmal dyskinesia Trigger: Exercise Dyskinesia Chorea Dysarthria Muscular hypotonia -Motor Trigger: Stress Gait impairment Show more (+10) |
Chorea
|