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