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