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