Chang, 2016: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
AUS
|
1
|
27
|
Yes
|
-Motor
Retrocollis Gait impairment Dystonia, axial Myoclonus Dystonia, limb Delayed speech and language development Axial hypotonia Dysarthria Dyskinesia Torticollis Dystonia, generalized Dystonia, cervical Motor delay Show more (+11) |
n.a.
|
|
Yes
|
♀
|
C
|
AUS
|
1
|
23
|
Yes
|
Dystonia, arm
Hyperreflexia Spasticity Dyskinesia Motor delay Trigger: Caffeine Chorea Developmental regression Dystonia, limb Gait impairment Resting tremor Trigger: Stress Postural tremor Trigger: Exercise Delayed speech and language development -Motor Cognitive impairment Paroxysmal dyskinesia Tremor, head Axial hypotonia Delayed gross motor development Tremor (any or unspecified) Show more (+19) |
Chorea
|
|
Yes
|
♀
|
C
|
ITA
|
1
|
9
|
No
|
Motor delay
Chorea Trigger: Exercise Delayed gross motor development Dystonia, limb Dystonia, cervical -Motor Delayed speech and language development Dyskinesia Dystonia, generalized Torticollis Dysarthria Axial hypotonia Dystonia, arm Gait impairment Show more (+12) |
Chorea
|
|
Yes
|
♂
|
C
|
AUS
|
1
|
10
|
Yes
|
Dyskinesia
Trigger: Stress Dystonia, arm Gait impairment -Motor Delayed speech and language development Axial hypotonia Motor delay Hyperreflexia Trigger: Exercise Dysarthria Dystonia, limb Delayed gross motor development Chorea Paroxysmal dyskinesia Spasticity Dystonia, generalized Show more (+14) |
Chorea
|
|
Yes
|
♀
|
C
|
AUS
|
1
|
9
|
No
|
Dyskinesia
Chorea Myoclonus -Motor Facial twitches Gait impairment Trigger: Exercise Dysarthria Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
AUS
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
AUS
|
1
|
23
|
No
|
Dyskinesia
Gait impairment Axial hypotonia Dystonia, arm Dystonia, limb Retrocollis Trigger: Exercise Chorea Trigger: Stress -Motor Dystonia, cervical Dystonia, task-specific Motor delay Delayed gross motor development Show more (+11) |
Chorea
|
|
No
|
♂
|
C
|
AUS
|
n.a.
|
n.a.
|
Yes
|
-Motor
Tremor (any or unspecified) Dystonia, limb Postural tremor Dyskinesia Myoclonus Show more (+3) |
n.a.
|