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