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, focal Dystonia, cervical Tremor, head Dystonia (any or unspecified) Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
20
|
25
|
Yes
|
Blepharospasm
Dystonia, axial Dystonia, segmental/multifocal Dystonia, cervical Torticollis Dystonia, craniofacial Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
30
|
36
|
Yes
|
Dystonia (any or unspecified)
Tremor, limb Tremor (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
22
|
42
|
No
|
Dystonia, cervical
Dystonia, jaw Torticollis Dystonia, segmental/multifocal Dystonia (any or unspecified) Blepharospasm Dystonia, craniofacial Dystonia, oromandibular Dysarthria Dystonia, laryngeal Dystonia, tongue Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
21
|
31
|
Yes
|
Torticollis
Dystonia, jaw Blepharospasm Dystonia, oromandibular Dystonia, lower face Dystonia (any or unspecified) Dystonia, cervical Dystonia, craniofacial Dystonia, tongue Dystonia, laryngeal Dysarthria Dystonia, segmental/multifocal Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
25
|
40
|
No
|
Dystonia, lower face
Dystonia, jaw Dystonia, tongue Dystonia, craniofacial Dystonia, segmental/multifocal Dysarthria Dystonia, laryngeal Dystonia, cervical Torticollis Dystonia (any or unspecified) Show more (+7) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
Yes
|
Dystonia, focal
Dystonia (any or unspecified) Torticollis Tremor (any or unspecified) Dystonia, cervical Tremor, head Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
21
|
29
|
Yes
|
Dystonia, craniofacial
Dystonia, oromandibular Dystonia, tongue Dystonia, jaw Dystonia, cervical Dystonia, lower face Dystonia (any or unspecified) Dystonia, segmental/multifocal Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
12
|
21
|
Yes
|
Dystonia, craniofacial
Dystonia, tongue Torticollis Dystonia, jaw Dystonia, limb Dystonia, segmental/multifocal Tremor (any or unspecified) Dysarthria Dystonia (any or unspecified) Tremor, limb Dystonia, laryngeal Dystonia, hand Dystonia, cervical Show more (+10) |
Dystonia, hand
|
|
No
|
♀
|
A
|
CHN
|
25
|
46
|
Yes
|
Dystonia, cervical
Dystonia (any or unspecified) Dystonia, jaw Dystonia, laryngeal Dystonia, craniofacial Dystonia, segmental/multifocal Dysarthria Dystonia, tongue Torticollis Show more (+6) |
n.a.
|