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