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