Krause, 2015: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
20
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia, limb Dystonia, segmental/multifocal Dystonia (any or unspecified) Retrocollis Torticollis Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
n.a.
|
Yes
|
Dystonia, craniofacial
Dystonia, generalized Dystonia, cervical Dysarthria Dystonia, axial Dystonia, oromandibular Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, limb Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia (any or unspecified) Dystonia, focal |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
Yes
|
Dystonia, tongue
Dystonia, laryngeal Dystonia, craniofacial Dystonia, limb Dystonia, leg Dystonia, axial Dystonia, generalized Dystonia, oromandibular Dystonia, hand Dystonia (any or unspecified) Dystonia,task-specific Show more (+8) |
Dystonia, leg
Dystonia, hand |