Steinberger, 2007: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Dystonia, hand
Upper limb dystonia
Show more (+4)
n.a.
No
n.a.
n.a.
4
65
n.a.
Dystonia, segmental/multifocal
Lower limb dystonia
Upper limb dystonia
Dystonia, arm
Dystonia, limb
Dystonia, foot
Dystonia (any or unspecified)
Show more (+4)
n.a.
No
n.a.
n.a.
n.a.
30
n.a.
Dystonia, segmental/multifocal
Dystonia, foot
Lower limb dystonia
Motor delay
Dystonia (any or unspecified)
Dystonia, limb
Show more (+3)
n.a.
Yes
n.a.
n.a.
6
66
n.a.
Dystonia, arm
Diurnal fluctuations
Upper limb dystonia
Dystonia, hand
Dystonia, leg
Anarthria
Dystonia (any or unspecified)
Torticollis
Dystonia, cervical
Dystonia, segmental/multifocal
Lower limb dystonia
Show more (+8)
n.a.
Yes
n.a.
n.a.
6
11
n.a.
Dystonia, leg
Lower limb dystonia
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, foot
Diurnal fluctuations
Show more (+4)
n.a.
No
n.a.
n.a.
6
24
n.a.
Dystonia, limb
Upper limb dystonia
Torticollis
Dystonia, segmental/multifocal
Lower limb dystonia
Diurnal fluctuations
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, hand
Dystonia, foot
Show more (+7)
n.a.
No
n.a.
n.a.
4
n.a.
n.a.
Dystonia, focal
Lower limb dystonia
Diurnal fluctuations
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, foot
Show more (+3)
n.a.
No
n.a.
n.a.
n.a.
6
n.a.
Dystonia, limb
Dystonia, foot
Dystonia, segmental/multifocal
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, leg
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
52
n.a.
Spasticity
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, hand
Upper limb dystonia
Torticollis
Dystonia, foot
Dystonia, cervical
Postural instability
Dystonia, segmental/multifocal
Dystonia, leg
Lower limb dystonia
Show more (+9)
n.a.