Krim, 2018: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
18
23
n.a.
Dystonia, cervical
Dystonia, limb
Lower limb dystonia
Dystonia, foot
Dystonia, segmental/multifocal
Dystonia, leg
Dystonia (any or unspecified)
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Dystonia, leg
p.Glu236*: het
No
n.a.
n.a.
15
54
No
Dystonia (any or unspecified)
Dystonia, foot
Upper limb dystonia
Dystonia, task-specific
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, hand
Diurnal fluctuations
Lower limb dystonia
Show more (+7)
Dystonia, foot
p.Glu236*: het