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