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