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