Nitschke, 1998: 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.
4
28
n.a.
Dystonia, generalized
Dystonia, axial
Dystonia, hand
Dystonia, limb
Dystonia, arm
Dystonia, task-specific
Short stature
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, foot
Sleep benefit
Motor delay
Dystonia, leg
Upper limb dystonia
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n.a.
p.Glu61*: het
No
n.a.
n.a.
n.a.
56
n.a.
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, craniofacial
Dystonia, upper face
Dystonia, limb
Dysarthria
Dystonia, foot
Lower limb dystonia
Dystonia, cervical
Dystonia, lower face
Dystonia, leg
Torticollis
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n.a.
p.Glu61*: het
No
n.a.
n.a.
n.a.
43
n.a.
Lower limb dystonia
Retrocollis
Dystonia, lower face
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Dystonia, axial
Upper limb dystonia
Dystonia, foot
Dystonia, craniofacial
Dystonia, upper face
Dystonia, arm
Dystonia, hand
Dystonia, generalized
Diurnal fluctuations
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n.a.
p.Glu61*: het