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, axial
Dystonia, arm Dystonia, limb Blepharospasm Dystonia, cervical Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, leg Dystonia, generalized Show more (+7) |
Dystonia, leg
|
|
No
|
♀
|
C
|
DEU
|
13
|
42
|
Yes
|
Dystonia, axial
Dystonia, tongue Dystonia, cervical Dystonia, lower face Dystonia, generalized Dystonia, jaw Dystonia, limb Dystonia, leg Dystonia, laryngeal Dystonia, craniofacial Dystonia, arm Dystonia (any or unspecified) Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
13
|
46
|
Yes
|
Dystonia, axial
Dystonia, arm Blepharospasm Dystonia (any or unspecified) Dystonia, leg Dystonia, lower face Dystonia, jaw Dystonia, generalized Dystonia, craniofacial Dystonia, cervical Dystonia, tongue Dystonia, limb Show more (+9) |
Dystonia, leg
|
|
No
|
♂
|
O
|
n.a.
|
9
|
13
|
Yes
|
Dystonia, arm
Dystonia (any or unspecified) Dystonia, limb Dystonia, segmental/multifocal Show more (+1) |
Dystonia, arm
|
|
No
|
♀
|
O
|
n.a.
|
20
|
43
|
Yes
|
Dystonia, craniofacial
Dystonia, tongue Dystonia, lower face Dystonia, segmental/multifocal Blepharospasm Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
No
|
♂
|
O
|
n.a.
|
10
|
23
|
Yes
|
Dystonia, limb
Dystonia (any or unspecified) Blepharospasm Dystonia, lower face Dystonia, cervical Dystonia, jaw Dystonia, laryngeal Dystonia, segmental/multifocal Dystonia, arm Dystonia, tongue Dystonia, craniofacial Show more (+8) |
n.a.
|
|
No
|
♂
|
O
|
n.a.
|
6
|
10
|
Yes
|
Dystonia, leg
Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, tongue Dystonia, limb Dystonia, axial Dystonia, lower face Dystonia, generalized Dystonia, arm Dystonia, cervical Show more (+7) |
n.a.
|
|
No
|
♀
|
O
|
n.a.
|
24
|
40
|
Yes
|
Dystonia, laryngeal
Dystonia, leg Dystonia, lower face Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Dystonia, craniofacial Blepharospasm Show more (+6) |
n.a.
|
|
No
|
♀
|
O
|
n.a.
|
6
|
34
|
Yes
|
Dystonia, cervical
Dystonia, arm Dystonia (any or unspecified) Dystonia, limb Dystonia, segmental/multifocal Dystonia, leg Dystonia, laryngeal Show more (+4) |
Dystonia, arm
|
|
No
|
♀
|
O
|
n.a.
|
15
|
17
|
Yes
|
Dystonia, cervical
Dystonia, segmental/multifocal Dystonia, arm Dystonia, limb Dystonia (any or unspecified) Show more (+2) |
n.a.
|