Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
Facial twitches
Dysarthria Chorea Dyskinesia Motor delay -Motor Myoclonus Axial hypotonia Paroxysmal dyskinesia Cerebellar signs Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Axial hypotonia
Seizures Delayed gross motor development Motor delay -Motor Gait impairment Hyperreflexia Dysarthria Dyskinesia Myoclonus Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Postural tremor
Trigger: Anxiety Dyskinesia -Motor Chorea Tremor (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Cerebellar signs
Myoclonus Chorea Cognitive impairment Facial twitches Hyperreflexia -Motor Dysarthria Dyskinesia Axial hypotonia Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Axial hypotonia
Muscular hypotonia Gait impairment -Motor Dyskinesia Dystonia, limb Dystonia, axial Motor delay Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|