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