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