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