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