Carecchio, 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
|
ITA
|
3
|
47
|
Yes
|
Delayed speech and language development
Trigger: Sleep deprivation -Motor Dyskinesia Motor delay Chorea Show more (+3) |
Chorea
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
15
|
No
|
Dystonia, generalized
Dyskinesia -Motor Motor delay Dystonia, foot Dystonia, limb Trigger: Sleep deprivation Paroxysmal dyskinesia Dysarthria Axial hypotonia Delayed speech and language development Chorea Gait impairment Show more (+10) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
1
|
3
|
Yes
|
Axial hypotonia
-Motor Delayed speech and language development Dystonia, foot Chorea Motor delay Dystonia, limb Gait impairment Dyskinesia Show more (+6) |
Chorea
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
35
|
No
|
Dyskinesia
Dystonia, foot Chorea Delayed speech and language development Dystonia, limb Axial hypotonia Dysarthria Dystonia, hand Motor delay -Motor Show more (+7) |
Chorea
|
|
Yes
|
♂
|
C
|
n.a.
|
2
|
5
|
No
|
Muscular hypotonia
Dystonia, arm Dystonia, axial Dyskinesia Axial hypotonia Dystonia, limb Motor delay Delayed speech and language development Chorea -Motor Show more (+7) |
Chorea
|
|
Yes
|
♂
|
C
|
ITA
|
1
|
18
|
No
|
Dystonia, cervical
Dystonia, generalized Gait impairment Paroxysmal dyskinesia Spasticity Dyskinesia Chorea Dysarthria Trigger: Stress Myoclonus -Motor Motor delay Show more (+9) |
n.a.
|