Deik, 2012: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
18
|
n.a.
|
Dystonia, generalized
Dystonia, jaw Dystonia, lower face Dystonia, tongue Dystonia, leg Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, axial Dystonia, arm Dystonia, limb Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
21
|
51
|
n.a.
|
Dystonia, arm
Dystonia, limb Dystonia, cervical Dystonia (any or unspecified) Dystonia, tongue Dystonia, segmental/multifocal Dystonia, jaw Dystonia, lower face Dystonia, craniofacial Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
8
|
19
|
n.a.
|
Dystonia, segmental/multifocal
Dystonia, cervical Dystonia, limb Dystonia, tongue Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, leg Dystonia, arm Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
3
|
24
|
n.a.
|
Dystonia, cervical
Dystonia, arm Dystonia, segmental/multifocal Dystonia, laryngeal Dystonia, limb Dystonia, leg Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
11
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, lower face Dystonia, generalized Dystonia, tongue Dystonia, arm Dystonia, axial Dystonia, limb Dystonia, leg Dystonia, craniofacial Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
16
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, laryngeal Dystonia, focal |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
46
|
n.a.
|
Dystonia, jaw
Dystonia, leg Dystonia, tongue Dystonia (any or unspecified) Dystonia, lower face Dystonia, craniofacial Dystonia, generalized Dystonia, limb Dystonia, axial Dystonia, arm Dystonia, cervical Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
29
|
42
|
n.a.
|
Dystonia, cervical
Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Dystonia, segmental/multifocal Show more (+2) |
n.a.
|