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