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