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