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