Dy, 2016: Overview of all reported CHOR-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
O
|
PRI
|
0
|
3
|
No
|
Anarthria
-Motor Developmental regression Dysarthria Delayed speech and language development Chorea Cognitive impairment Motor delay Axial hypotonia Ballism Dyskinesia Gait impairment Show more (+9) |
Chorea
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
8
|
No
|
Delayed gross motor development
Motor delay Dyskinesia Dysarthria -Motor Gait impairment Dystonia, task-specific Chorea Myoclonus Weakness Axial hypotonia Dystonia, generalized Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
32
|
Yes
|
-Motor
Motor delay Hyperreflexia Tremor, limb Spasticity Chorea Dyskinesia Resting tremor Delayed gross motor development Dystonia, arm Dystonia, limb Gait impairment Delayed speech and language development Tremor (any or unspecified) Paroxysmal dyskinesia Axial hypotonia Dystonia, task-specific Tremor, head Show more (+15) |
Chorea
|