Vemula, 2014: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
25
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
58
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
n.a.
|
69
|
n.a.
|
No
|
Blepharospasm
|
||
Yes
|
♂
|
C
|
n.a.
|
55
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, focal |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
|
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
61
|
n.a.
|
No
|
Dystonia, jaw
Dystonia (any or unspecified) Dystonia, oromandibular Dystonia, craniofacial Dystonia, focal Show more (+2) |
Dystonia, jaw
|
|
Yes
|
♀
|
C
|
n.a.
|
66
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♀
|
C
|
n.a.
|
48
|
n.a.
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
|
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
50
|
n.a.
|
No
|
Blepharospasm
|