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 - face
Athetosis Attacks at rest Attacks – bilateral Trigger: Stress Attacks - neck Chorea Dystonia Trigger: Prolonged fasting Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
30
|
n.a.
|
Athetosis
Attacks – bilateral Aura preceding attacks Attacks - trunk Attacks at rest Chorea Trigger: Stress Trigger: Prolonged fasting Dystonia Attacks - face Trigger: Caffeine Trigger: Sleep deprivation Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
0
|
28
|
n.a.
|
Trigger: Sleep deprivation
Attacks - neck Attacks at rest Attacks – bilateral Trigger: Prolonged fasting Dystonia Trigger: Stress Trigger: Caffeine Aura preceding attacks Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
22
|
n.a.
|
Trigger: Sleep deprivation
Attacks – bilateral Chorea Trigger: Stress Attacks - face Trigger: Caffeine Athetosis Attacks - neck Attacks at rest Aura preceding attacks Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
SRB
|
1
|
50
|
n.a.
|
Attacks – bilateral
Aura preceding attacks Trigger: Caffeine Trigger: Stress Athetosis Attacks - face Attacks at rest Dystonia Chorea Speech disturbance Show more (+7) |
n.a.
|