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