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
|
-Motor
Dystonia, limb Ballism Dyskinesia Trigger: Stress Attacks at rest Dystonia, foot Cerebellar signs Trigger: Anxiety Dystonia, hand Motor delay Chorea Delayed gross motor development Dystonia, axial Gait impairment Paroxysmal dyskinesia Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
1
|
36
|
Yes
|
Attacks at rest
Facial twitches Dystonia, task-specific -Motor Ballism Chorea Dysarthria Trigger: Sleep deprivation Gait impairment Trigger: Stress Dyskinesia Show more (+8) |
Chorea
|