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
|
Gait impairment
-Motor Muscular hypotonia Myoclonus Trigger: Stress Mild global developmental delay Trigger: Exercise Facial twitches Paroxysmal dyskinesia Dysarthria Dyskinesia Chorea Global developmental delay Show more (+10) |
Chorea
|