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