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, segmental/multifocal
Dystonia, limb Dystonia, cervical Torticollis Retrocollis Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
n.a.
|
Yes
|
Dysarthria
Dystonia, cervical Dystonia, generalized Dystonia, laryngeal Dystonia, limb Dystonia, oromandibular Dystonia, axial Dystonia (any or unspecified) Dystonia, craniofacial Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, focal |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
Yes
|
Dystonia, generalized
Dystonia, leg Dystonia (any or unspecified) Dystonia, hand Dystonia,task-specific Dystonia, oromandibular Dystonia, tongue Dystonia, limb Dystonia, craniofacial Dystonia, axial Dystonia, laryngeal Show more (+8) |
Dystonia, leg
Dystonia, hand |