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