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