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