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