Chen, 2015: 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.
|
0
|
22
|
No
|
-Motor
Cerebellar signs Chorea Facial twitches Dysarthria Dyskinesia Paroxysmal dyskinesia Axial hypotonia Motor delay Myoclonus Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Seizures
Axial hypotonia Myoclonus Dyskinesia Hyperreflexia -Motor Delayed gross motor development Dysarthria Gait impairment Motor delay Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Postural tremor
Chorea Tremor (any or unspecified) -Motor Dyskinesia Trigger: Anxiety Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Cerebellar signs
Chorea Cognitive impairment Hyperreflexia Myoclonus -Motor Axial hypotonia Dysarthria Dyskinesia Facial twitches Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Muscular hypotonia
-Motor Dystonia, axial Dyskinesia Motor delay Axial hypotonia Dystonia, limb Gait impairment Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|