Blanchard, 2011: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
7
|
50
|
Yes
|
Dystonia (any or unspecified)
Dystonia, leg Dystonia, generalized Dystonia, cervical Dystonia, arm Dystonia, limb Dystonia, jaw Dystonia, lower face Dystonia, tongue Dystonia, laryngeal Dystonia, craniofacial Show more (+8) |
Dystonia, arm
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
52
|
Yes
|
Dystonia, tongue
Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, leg Dystonia, arm Dystonia, limb Dystonia, cervical Dystonia, jaw Dystonia, lower face Dystonia, generalized Show more (+8) |
Dystonia, leg
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
38
|
No
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, axial Dystonia, segmental/multifocal Torticollis Dystonia, hand Dystonia, limb Dystonia, arm Dystonia,task-specific Show more (+6) |
Dystonia, arm
|