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