Stefanova, 2006: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
SRB
|
0
|
15
|
n.a.
|
Attacks at rest
Trigger: Prolonged fasting Attacks - face Attacks - neck Trigger: Stress Attacks – bilateral Chorea Athetosis Dystonia Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
30
|
n.a.
|
Trigger: Stress
Attacks – bilateral Attacks - face Chorea Trigger: Prolonged fasting Dystonia Trigger: Caffeine Aura preceding attacks Attacks at rest Athetosis Attacks - trunk Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
28
|
n.a.
|
Trigger: Sleep deprivation
Trigger: Stress Attacks - neck Attacks – bilateral Dystonia Trigger: Caffeine Attacks at rest Aura preceding attacks Trigger: Prolonged fasting Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
22
|
n.a.
|
Attacks - neck
Aura preceding attacks Trigger: Stress Attacks - face Chorea Attacks at rest Attacks – bilateral Trigger: Caffeine Athetosis Trigger: Sleep deprivation Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
50
|
n.a.
|
Trigger: Stress
Attacks at rest Chorea Attacks – bilateral Dystonia Aura preceding attacks Speech disturbance Trigger: Caffeine Attacks - face Athetosis Show more (+7) |
n.a.
|