Cheng, 2012: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
A
|
CHN
|
50
|
58
|
Yes
|
Tremor (any or unspecified)
Dystonia, cervical Tremor, head Dystonia (any or unspecified) Dystonia, focal Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
20
|
25
|
Yes
|
Torticollis
Dystonia (any or unspecified) Blepharospasm Dystonia, craniofacial Dystonia, axial Dystonia, segmental/multifocal Dystonia, cervical Show more (+4) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
30
|
36
|
Yes
|
Tremor, limb
Tremor (any or unspecified) Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
22
|
42
|
No
|
Dystonia, craniofacial
Dystonia, tongue Dystonia, jaw Dystonia, segmental/multifocal Dystonia, oromandibular Blepharospasm Dystonia, laryngeal Dystonia, cervical Torticollis Dysarthria Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
21
|
31
|
Yes
|
Dystonia, lower face
Dystonia, oromandibular Dystonia, cervical Dystonia, laryngeal Blepharospasm Dystonia, segmental/multifocal Dystonia, tongue Dystonia (any or unspecified) Dystonia, jaw Torticollis Dystonia, craniofacial Dysarthria Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
25
|
40
|
No
|
Dystonia, tongue
Dystonia, segmental/multifocal Dystonia, jaw Dystonia, lower face Dystonia (any or unspecified) Dysarthria Dystonia, craniofacial Dystonia, cervical Torticollis Dystonia, laryngeal Show more (+7) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia (any or unspecified) Tremor (any or unspecified) Tremor, head Dystonia, focal Torticollis Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
21
|
29
|
Yes
|
Dystonia, lower face
Dystonia, oromandibular Dystonia, tongue Dystonia, jaw Dystonia, craniofacial Dystonia, cervical Dystonia, segmental/multifocal Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
12
|
21
|
Yes
|
Dystonia, hand
Dystonia, limb Tremor (any or unspecified) Dysarthria Dystonia, jaw Dystonia, laryngeal Torticollis Dystonia, cervical Dystonia, segmental/multifocal Dystonia, craniofacial Dystonia, tongue Dystonia (any or unspecified) Tremor, limb Show more (+10) |
Dystonia, hand
|
|
No
|
♀
|
A
|
CHN
|
25
|
46
|
Yes
|
Dystonia, laryngeal
Dystonia (any or unspecified) Dystonia, cervical Dystonia, segmental/multifocal Dysarthria Torticollis Dystonia, tongue Dystonia, craniofacial Dystonia, jaw Show more (+6) |
n.a.
|