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