Mencacci, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
GBR
|
1
|
64
|
Yes
|
n.a.
|
||
Yes
|
♂
|
B
|
PAK
|
2
|
22
|
No
|
Gait impairment
Ballism Trigger: Anxiety Attacks at rest Cerebellar signs Trigger: Stress Dystonia, limb Chorea Dystonia, hand Dystonia, foot Dystonia, axial Dyskinesia Delayed gross motor development Paroxysmal dyskinesia Motor delay -Motor Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
1
|
36
|
Yes
|
Trigger: Sleep deprivation
Attacks at rest Chorea Trigger: Stress Dysarthria Facial twitches Gait impairment Dyskinesia Dystonia, task-specific -Motor Ballism Show more (+8) |
Chorea
|