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