Chen, 2014: 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
|
USA
|
2
|
15
|
No
|
Delayed gross motor development
Chorea Myoclonus Tremor (any or unspecified) Gait impairment Facial twitches Delayed speech and language development Dystonia, task-specific Spasticity Dystonia, axial Motor delay Paroxysmal dyskinesia Attacks at rest Axial hypotonia Dyskinesia Dysphonia Trigger: Anxiety -Motor Weakness Trigger: Stress Hyperreflexia Ballism Resting tremor Dysarthria Tremor, limb Show more (+22) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
5
|
18
|
No
|
Chorea
Dyskinesia Dystonia, limb -Motor Dystonia, task-specific Facial twitches Dysarthria Paroxysmal dyskinesia Show more (+5) |
n.a.
|