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