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