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