Söhn, 2010: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DEU
|
n.a.
|
n.a.
|
No
|
Dystonia, lower face
Blepharospasm Dystonia, jaw Dystonia (any or unspecified) Dystonia, generalized Dystonia, craniofacial Dystonia, leg Dystonia, limb Dystonia, oromandibular Dystonia, laryngeal Dystonia, cervical Dystonia, tongue Dystonia, foot Show more (+10) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♀
|
C
|
DEU
|
35
|
n.a.
|
No
|
Dystonia, focal
Dystonia (any or unspecified) Dystonia, cervical |
n.a.
|
|
Yes
|
♀
|
C
|
DEU
|
n.a.
|
n.a.
|
No
|
Blepharospasm
Dystonia, tongue Dystonia, lower face Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, oromandibular Dystonia, cervical Dystonia, jaw Dystonia, segmental/multifocal Dystonia, craniofacial Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
DEU
|
5
|
n.a.
|
No
|
Dystonia, jaw
Dystonia, generalized Dystonia, tongue Dystonia, foot Dystonia (any or unspecified) Dystonia, limb Dystonia, craniofacial Dystonia, leg Dysarthria Dystonia, laryngeal Show more (+7) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♀
|
C
|
DEU
|
46
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|