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