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