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, limb
Dystonia, task-specific
Dystonia, foot
Dystonia, generalized
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, axial
Upper limb dystonia
Short stature
Motor delay
Lower limb dystonia
Dystonia, arm
Sleep benefit
Show more (+11)
n.a.
p.Glu61*: het
No
n.a.
n.a.
n.a.
56
n.a.
Dystonia, foot
Dystonia, segmental/multifocal
Dystonia, limb
Dysarthria
Dystonia, upper face
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, craniofacial
Torticollis
Dystonia, cervical
Dystonia, lower face
Lower limb dystonia
Show more (+9)
n.a.
p.Glu61*: het
No
n.a.
n.a.
n.a.
43
n.a.
Retrocollis
Diurnal fluctuations
Dystonia, arm
Lower limb dystonia
Dystonia, upper face
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, generalized
Dystonia, foot
Dystonia, hand
Dystonia, limb
Dystonia, lower face
Dystonia, cervical
Dystonia, axial
Upper limb dystonia
Show more (+12)
n.a.
p.Glu61*: het