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