Fuchs, 2009: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
O
|
n.a.
|
7
|
64
|
Yes
|
Dystonia, laryngeal
Blepharospasm Dystonia, arm Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, generalized Dystonia, leg Dystonia, cervical Dystonia, axial Dystonia, limb Show more (+7) |
Dystonia, leg
|
|
No
|
♀
|
C
|
DEU
|
13
|
42
|
Yes
|
Dystonia, leg
Dystonia, generalized Dystonia, craniofacial Dystonia, cervical Dystonia, tongue Dystonia (any or unspecified) Dystonia, arm Dystonia, laryngeal Dystonia, axial Dystonia, limb Dystonia, lower face Dystonia, jaw Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
13
|
46
|
Yes
|
Dystonia, arm
Dystonia, tongue Dystonia, generalized Dystonia, leg Dystonia, limb Blepharospasm Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, axial Dystonia, jaw Dystonia, lower face Dystonia, cervical Show more (+9) |
Dystonia, leg
|
|
No
|
♂
|
O
|
n.a.
|
9
|
13
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, arm Dystonia (any or unspecified) Dystonia, limb Show more (+1) |
Dystonia, arm
|
|
No
|
♀
|
O
|
n.a.
|
20
|
43
|
Yes
|
Blepharospasm
Dystonia, segmental/multifocal Dystonia, craniofacial Dystonia, tongue Dystonia (any or unspecified) Dystonia, lower face Show more (+3) |
n.a.
|
|
No
|
♂
|
O
|
n.a.
|
10
|
23
|
Yes
|
Dystonia, cervical
Dystonia, limb Dystonia, tongue Dystonia, jaw Blepharospasm Dystonia, craniofacial Dystonia, arm Dystonia, segmental/multifocal Dystonia, lower face Dystonia, laryngeal Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
No
|
♂
|
O
|
n.a.
|
6
|
10
|
Yes
|
Dystonia, lower face
Dystonia, craniofacial Dystonia, leg Dystonia, axial Dystonia, tongue Dystonia, arm Dystonia, generalized Dystonia, cervical Dystonia (any or unspecified) Dystonia, limb Show more (+7) |
n.a.
|
|
No
|
♀
|
O
|
n.a.
|
24
|
40
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, craniofacial Blepharospasm Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, arm Dystonia, limb Dystonia, leg Dystonia, lower face Show more (+6) |
n.a.
|
|
No
|
♀
|
O
|
n.a.
|
6
|
34
|
Yes
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Dystonia, limb Dystonia, arm Dystonia, cervical Dystonia, leg Dystonia, laryngeal Show more (+4) |
Dystonia, arm
|
|
No
|
♀
|
O
|
n.a.
|
15
|
17
|
Yes
|
Dystonia, arm
Dystonia, limb Dystonia, segmental/multifocal Dystonia, cervical Dystonia (any or unspecified) Show more (+2) |
n.a.
|