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