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