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