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