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