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