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