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
Trigger: Exercise
Muscular hypotonia
Paroxysmal dyskinesia
-Motor
Dysarthria
Chorea
Global developmental delay
Gait impairment
Mild global developmental delay
Myoclonus
Facial twitches
Dyskinesia
Trigger: Stress
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Chorea