Saunders-Pullman, 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
|
♀
|
O
|
n.a.
|
7
|
50
|
No
|
Dystonia, segmental/multifocal
Dystonia, leg Dystonia, arm Dystonia (any or unspecified) Dystonia, cervical Dystonia, limb Show more (+3) |
Dystonia, arm
|
|
Yes
|
♀
|
O
|
n.a.
|
10
|
53
|
Yes
|
Dystonia, craniofacial
Dystonia, cervical Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Dystonia, segmental/multifocal Blepharospasm Show more (+4) |
Dystonia, arm
|
|
Yes
|
♀
|
O
|
n.a.
|
12
|
31
|
Yes
|
Dystonia, limb
Dystonia, cervical Dystonia, craniofacial Dystonia, lower face Dystonia, tongue Dystonia, axial Dystonia, arm Dystonia, jaw Blepharospasm Dystonia (any or unspecified) Dystonia, leg Dystonia, generalized Show more (+9) |
n.a.
|
|
Yes
|
♀
|
O
|
n.a.
|
18
|
18
|
No
|
Dystonia, limb
Dystonia, arm Dystonia (any or unspecified) Dystonia, generalized Dystonia, cervical Dystonia, axial Dystonia, leg Show more (+4) |
n.a.
|