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.
|
Speech disturbance
Athetosis Attacks at rest Chorea Aura preceding attacks Trigger: Stress Dystonia Attacks - trunk Attacks – bilateral Attacks - face Attacks - neck Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
Yes
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Trigger: Stress
Athetosis Chorea Speech disturbance Dystonia Attacks – bilateral Attacks - face Attacks - neck Trigger: Sleep deprivation Aura preceding attacks Attacks at rest Attacks - trunk Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Aura preceding attacks
Athetosis Speech disturbance Attacks - trunk Trigger: Stress Attacks at rest Chorea Attacks - face Attacks - neck Trigger: Sleep deprivation Attacks – bilateral Dystonia Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Trigger: Sleep deprivation
Attacks - face Attacks - neck Aura preceding attacks Speech disturbance Chorea Attacks at rest Athetosis Attacks – bilateral Attacks - trunk Dystonia Trigger: Stress Show more (+9) |
n.a.
|
|
No
|
♂
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Attacks - neck
Speech disturbance Athetosis Attacks - face Aura preceding attacks Chorea Attacks at rest Attacks – bilateral Dystonia Attacks - trunk Trigger: Stress Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
n.a.
|
B
|
OMN
|
n.a.
|
n.a.
|
n.a.
|
Speech disturbance
Attacks - face Attacks - trunk Attacks at rest Athetosis Chorea Dystonia Aura preceding attacks Attacks – bilateral Attacks - neck Trigger: Stress Trigger: Sleep deprivation Show more (+9) |
n.a.
|