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