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