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