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, limb
Dystonia, generalized Dystonia, foot Dystonia, lower face Dystonia (any or unspecified) Dystonia, oromandibular Blepharospasm Dystonia, tongue Dystonia, cervical Dystonia, laryngeal Dystonia, leg Dystonia, craniofacial Dystonia, jaw Show more (+10) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♀
|
C
|
DEU
|
35
|
n.a.
|
No
|
Dystonia, focal
Dystonia, cervical Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♀
|
C
|
DEU
|
n.a.
|
n.a.
|
No
|
Dystonia, jaw
Dystonia, tongue Blepharospasm Dystonia, craniofacial Dystonia, segmental/multifocal Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, cervical Dystonia, laryngeal Dystonia, lower face Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
DEU
|
5
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, foot Dystonia, tongue Dystonia, limb Dystonia, generalized Dysarthria Dystonia, craniofacial Dystonia, laryngeal Dystonia, leg Dystonia, jaw Show more (+7) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♀
|
C
|
DEU
|
46
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|