Chang, 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
|
♂
|
C
|
AUS
|
1
|
27
|
Yes
|
Torticollis
Gait impairment Delayed speech and language development Dystonia, limb Motor delay Myoclonus Axial hypotonia Retrocollis -Motor Dystonia, generalized Dyskinesia Dystonia, axial Dystonia, cervical Dysarthria Show more (+11) |
n.a.
|
|
Yes
|
♀
|
C
|
AUS
|
1
|
23
|
Yes
|
Developmental regression
Resting tremor Trigger: Caffeine Axial hypotonia Dyskinesia Dystonia, limb Gait impairment Trigger: Exercise Chorea Trigger: Stress Motor delay Dystonia, arm Tremor, head -Motor Spasticity Cognitive impairment Delayed speech and language development Postural tremor Tremor (any or unspecified) Hyperreflexia Delayed gross motor development Paroxysmal dyskinesia Show more (+19) |
Chorea
|
|
Yes
|
♀
|
C
|
ITA
|
1
|
9
|
No
|
Dystonia, cervical
Trigger: Exercise Gait impairment Chorea Torticollis Dyskinesia Delayed speech and language development Motor delay -Motor Delayed gross motor development Dysarthria Axial hypotonia Dystonia, limb Dystonia, arm Dystonia, generalized Show more (+12) |
Chorea
|
|
Yes
|
♂
|
C
|
AUS
|
1
|
10
|
Yes
|
Paroxysmal dyskinesia
Spasticity Chorea Dystonia, limb -Motor Delayed gross motor development Motor delay Delayed speech and language development Dystonia, arm Trigger: Exercise Dysarthria Axial hypotonia Dyskinesia Gait impairment Dystonia, generalized Hyperreflexia Trigger: Stress Show more (+14) |
Chorea
|
|
Yes
|
♀
|
C
|
AUS
|
1
|
9
|
No
|
Chorea
Dysarthria Dyskinesia Trigger: Exercise Facial twitches Gait impairment -Motor Myoclonus Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
AUS
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
AUS
|
1
|
23
|
No
|
Gait impairment
Dystonia, task-specific Chorea Dystonia, limb Dyskinesia Trigger: Stress Motor delay -Motor Dystonia, cervical Retrocollis Axial hypotonia Dystonia, arm Delayed gross motor development Trigger: Exercise Show more (+11) |
Chorea
|
|
No
|
♂
|
C
|
AUS
|
n.a.
|
n.a.
|
Yes
|
Dystonia, limb
Tremor (any or unspecified) Dyskinesia Postural tremor -Motor Myoclonus Show more (+3) |
n.a.
|