Lee, 2013: 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
|
♀
|
A
|
KOR
|
12
|
39
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, limb Diurnal fluctuations Dystonia, axial Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
12
|
57
|
n.a.
|
Dystonia, cervical
Dystonia, leg Diurnal fluctuations Dystonia, limb Tremor (any or unspecified) Dystonia, generalized Dystonia, lower face Dystonia, axial Dystonia, craniofacial Dystonia, upper face Dystonia, foot Lower limb dystonia Postural tremor Dystonia (any or unspecified) Show more (+11) |
n.a.
|
|
Yes
|
♂
|
A
|
KOR
|
4
|
14
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Diurnal fluctuations Dyskinesia Dystonia, axial Dystonia, limb Show more (+3) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
6
|
17
|
n.a.
|
Dystonia, segmental/multifocal
Upper limb dystonia Diurnal fluctuations Dystonia (any or unspecified) Dystonia, foot Dystonia, arm Dystonia, limb Dystonia, hand Lower limb dystonia Dystonia, leg Show more (+7) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
10
|
34
|
n.a.
|
Dystonia, generalized
Upper limb dystonia Dystonia, leg Diurnal fluctuations Dystonia, cervical Dystonia, axial Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Dystonia, hand Dystonia, foot Lower limb dystonia Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
10
|
33
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, axial Dystonia, limb Diurnal fluctuations Show more (+2) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
5
|
20
|
n.a.
|
Diurnal fluctuations
Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Lower limb dystonia Dystonia, generalized Dystonia, leg Dystonia, axial Dystonia, foot Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
1
|
20
|
n.a.
|
Upper limb dystonia
Dystonia, leg Diurnal fluctuations Lower limb dystonia Dystonia, arm Dystonia (any or unspecified) Dystonia, axial Dystonia, foot Dystonia, limb Dystonia, generalized Dystonia, hand Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
11
|
41
|
n.a.
|
Lower limb dystonia
Dystonia, segmental/multifocal Dystonia, leg Dystonia, limb Diurnal fluctuations Dystonia, foot Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
6
|
13
|
n.a.
|
Dystonia, leg
Dystonia, limb Dystonia (any or unspecified) Lower limb dystonia Diurnal fluctuations Upper limb dystonia Dystonia, hand Dystonia, arm Dystonia, generalized Dystonia, axial Dystonia, foot Show more (+8) |
n.a.
|