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