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