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.
|
Upper limb dystonia
Dystonia, segmental/multifocal Dystonia, hand Dystonia, foot Dystonia, limb Dystonia (any or unspecified) Lower limb dystonia Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
4
|
65
|
n.a.
|
Dystonia, segmental/multifocal
Dystonia, foot Lower limb dystonia Upper limb dystonia Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
30
|
n.a.
|
Motor delay
Dystonia, foot Dystonia (any or unspecified) Dystonia, segmental/multifocal Lower limb dystonia Dystonia, limb Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
66
|
n.a.
|
Dystonia, leg
Dystonia, cervical Diurnal fluctuations Upper limb dystonia Dystonia, segmental/multifocal Dystonia, arm Dystonia (any or unspecified) Torticollis Lower limb dystonia Dystonia, hand Anarthria Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
11
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Lower limb dystonia Dystonia, leg Dystonia, foot Dystonia, segmental/multifocal Diurnal fluctuations Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
6
|
24
|
n.a.
|
Dystonia, cervical
Diurnal fluctuations Torticollis Dystonia (any or unspecified) Dystonia, segmental/multifocal Upper limb dystonia Dystonia, hand Dystonia, foot Lower limb dystonia Dystonia, limb Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
4
|
n.a.
|
n.a.
|
Lower limb dystonia
Diurnal fluctuations Dystonia, limb Dystonia, focal Dystonia, foot Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
6
|
n.a.
|
Dystonia, limb
Lower limb dystonia Dystonia, leg Dystonia, foot Dystonia, segmental/multifocal Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
52
|
n.a.
|
Lower limb dystonia
Dystonia, segmental/multifocal Dystonia, hand Dystonia, cervical Dystonia (any or unspecified) Dystonia, limb Torticollis Dystonia, foot Upper limb dystonia Dystonia, leg Spasticity Postural instability Show more (+9) |
n.a.
|