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