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, leg
Dystonia, tongue Dystonia, arm Dystonia, craniofacial Dystonia, jaw Dystonia, axial Dystonia, limb Dystonia (any or unspecified) Dystonia, generalized Dystonia, lower face Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
21
|
51
|
n.a.
|
Dystonia, arm
Dystonia, tongue Dystonia, lower face Dystonia, jaw Dystonia, craniofacial Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, cervical Dystonia, limb Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
8
|
19
|
n.a.
|
Dystonia, arm
Dystonia, cervical Dystonia, craniofacial Dystonia, tongue Dystonia (any or unspecified) Dystonia, leg Dystonia, segmental/multifocal Dystonia, limb Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
3
|
24
|
n.a.
|
Dystonia, leg
Dystonia, cervical Dystonia, segmental/multifocal Dystonia, laryngeal Dystonia, arm Dystonia, limb Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
11
|
19
|
n.a.
|
Dystonia, craniofacial
Dystonia, arm Dystonia, tongue Dystonia (any or unspecified) Dystonia, limb Dystonia, axial Dystonia, leg Dystonia, generalized Dystonia, lower face Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
16
|
19
|
n.a.
|
Dystonia, laryngeal
Dystonia, focal Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
12
|
46
|
n.a.
|
Dystonia, tongue
Dystonia, generalized Dystonia, lower face Dystonia, leg Dystonia, limb Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, arm Dystonia, axial Dystonia, jaw Dystonia, cervical Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
29
|
42
|
n.a.
|
Dystonia, limb
Dystonia, arm Dystonia (any or unspecified) Dystonia, cervical Dystonia, segmental/multifocal Show more (+2) |
n.a.
|