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