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, laryngeal
Dystonia, limb Dystonia, craniofacial Dystonia, arm Dystonia, tongue Dystonia, generalized Dystonia, lower face Dystonia, jaw Dystonia, leg Dystonia, cervical Dystonia (any or unspecified) Show more (+8) |
Dystonia, arm
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
52
|
Yes
|
Dystonia (any or unspecified)
Dystonia, tongue Dystonia, generalized Dystonia, limb Dystonia, leg Dystonia, jaw Dystonia, cervical Dystonia, laryngeal Dystonia, craniofacial Dystonia, arm Dystonia, lower face Show more (+8) |
Dystonia, leg
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
38
|
No
|
Dystonia, axial
Torticollis Dystonia, hand Dystonia, arm Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Dystonia,task-specific Dystonia, cervical Show more (+6) |
Dystonia, arm
|