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