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