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