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