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