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