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
|
-Motor
Motor delay Chorea Myoclonus Axial hypotonia Facial twitches Dysarthria Paroxysmal dyskinesia Cerebellar signs Dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Seizures
Myoclonus Hyperreflexia Dysarthria Gait impairment Motor delay Delayed gross motor development Dyskinesia -Motor Axial hypotonia Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
-Motor
Chorea Dyskinesia Postural tremor Tremor (any or unspecified) Trigger: Anxiety Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Chorea
Myoclonus Facial twitches Hyperreflexia Dyskinesia Dysarthria Cognitive impairment Axial hypotonia -Motor Cerebellar signs 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
Dystonia, limb -Motor Gait impairment Dyskinesia Dystonia, axial Motor delay Muscular hypotonia 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.
|