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