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