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