Hempelmann, 2006: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks - neck
Trigger: Stress Speech disturbance Athetosis Chorea Attacks - trunk Attacks at rest Dystonia Aura preceding attacks Trigger: Sleep deprivation Attacks – bilateral Attacks - face Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks at rest
Trigger: Sleep deprivation Speech disturbance Attacks - face Aura preceding attacks Attacks - trunk Dystonia Trigger: Stress Attacks – bilateral Athetosis Attacks - neck Chorea Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Dystonia
Athetosis Attacks - trunk Chorea Attacks – bilateral Attacks at rest Speech disturbance Attacks - neck Trigger: Stress Aura preceding attacks Trigger: Sleep deprivation Attacks - face Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Aura preceding attacks
Chorea Trigger: Stress Attacks – bilateral Attacks - face Athetosis Dystonia Attacks at rest Attacks - neck Attacks - trunk Speech disturbance Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
♂
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks – bilateral
Attacks at rest Dystonia Athetosis Trigger: Sleep deprivation Attacks - face Aura preceding attacks Chorea Speech disturbance Attacks - neck Attacks - trunk Trigger: Stress Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks at rest
Dystonia Chorea Attacks - neck Aura preceding attacks Speech disturbance Athetosis Attacks - face Trigger: Stress Attacks - trunk Trigger: Sleep deprivation Attacks – bilateral Show more (+9) |
n.a.
|