Carapito, 2015: Overview of all reported CHOR-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
FRA
4
15
Yes
Chorea
Muscular hypotonia
Gait impairment
-Motor
Dystonia, hand
Dyskinesia
Dystonia, limb
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n.a.
Yes
C
FRA
1
39
Yes
Dyskinesia
Dystonia, cervical
-Motor
Gait impairment
Dystonia, foot
Dystonia, limb
Chorea
Dystonia, arm
Hyperreflexia
Dystonia, craniofacial
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n.a.