Weber, 2011: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
DEU
n.a.
n.a.
Yes
Trigger: Exercise
Chorea
Athetosis
Dystonia
Show more (+1)
n.a.
No
C
DEU
6
16
Yes
Dystonia
Epileptic seizures (of any type)
Chorea
Athetosis
Trigger: Exercise
Migraine (any subclass)
Show more (+3)
n.a.
No
C
DEU
14
26
Yes
Dystonia
Chorea
Trigger: Exercise
Athetosis
Attacks – bilateral
Show more (+2)
n.a.
Yes
C
DEU
5
49
Yes
Postural instability
Athetosis
Delayed cognitive development
Trigger: Anxiety
Trigger: Stress
Attacks – bilateral
Trigger: Exercise
Dystonia
Attacks - face
Migraine (any subclass)
Speech disturbance
Chorea
Show more (+9)
n.a.
No
C
DEU
3
74
Yes
Ataxia
Bradykinesia
Trigger: Exercise
Migraine (any subclass)
Chorea
Athetosis
Dystonia
Show more (+4)
n.a.
No
C
DEU
10
42
Yes
Trigger: Exercise
Athetosis
Dystonia
Ataxia
Chorea
Show more (+2)
n.a.
No
C
DEU
7
47
Yes
Chorea
Migraine (any subclass)
Ataxia
Athetosis
Delayed cognitive development
Dystonia
Show more (+3)
n.a.
No
C
DEU
7
29
Yes
Dystonia
Athetosis
Chorea
Migraine (any subclass)
Delayed cognitive development
Bradykinesia
Ataxia
Show more (+4)
n.a.
No
C
DEU
10
50
Yes
Trigger: Anxiety
Chorea
Ataxia
Athetosis
Bradykinesia
Dystonia
Trigger: Stress
Show more (+4)
n.a.
Yes
C
AUS
n.a.
41
Yes
Chorea
Trigger: Exercise
Dystonia
Trigger: Stress
Athetosis
Trigger: Prolonged fasting
Trigger: Anxiety
Show more (+4)
n.a.