Zech, 2017: Overview of all reported CHOR-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
AUT
1
34
No
Dystonia, generalized
Dystonia, craniofacial
Dystonia, arm
Dyskinesia
Anarthria
Dystonia, axial
Dystonia, focal
Axial hypotonia
Dystonia, limb
Developmental regression
Dystonia, cervical
-Motor
Chorea
Gait impairment
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Chorea