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