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