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