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