Waalkens, 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
n.a.
n.a.
1
2
No
Motor delay
Hyperreflexia
-Motor
Chorea
Dyskinesia
Muscular hypotonia
Show more (+3)
n.a.
Yes
n.a.
n.a.
n.a.
40
No
Dystonia, limb
Spasticity
Dystonia, focal
Dystonia, hand
-Motor
Axial hypotonia
Dystonia, task-specific
Hyperreflexia
Dystonia, foot
Muscular hypotonia
Dyskinesia
Weakness
Show more (+9)
n.a.
Yes
n.a.
n.a.
2
16
No
Dyskinesia
Dystonia, limb
-Motor
Chorea
Tics
Paroxysmal dyskinesia
Show more (+3)
n.a.