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