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