Clot, 2011: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
11
|
30
|
No
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, generalized Blepharospasm Dystonia, cervical Dystonia, craniofacial Dystonia, arm Dystonia, leg Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
20
|
71
|
Yes
|
Dystonia, cervical
Dystonia (any or unspecified) Dystonia, leg Dystonia, craniofacial Dystonia, limb Dysphonia Dystonia, laryngeal Dystonia, tongue Dystonia, generalized Dysarthria Dystonia, arm Dystonia, jaw Myoclonus Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
20
|
60
|
Yes
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
12
|
25
|
No
|
Dystonia, leg
Dystonia, laryngeal Dysphonia Dystonia (any or unspecified) Blepharospasm Dystonia, limb Dystonia, generalized Dystonia, arm Dystonia, craniofacial Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
30
|
No
|
Dystonia, craniofacial
Dysphonia Dystonia, tongue Dysarthria Dystonia, limb Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, arm Dystonia, jaw Dystonia, cervical Show more (+8) |
Dystonia, arm
|
|
No
|
♀
|
n.a.
|
n.a.
|
13
|
17
|
Yes
|
Myoclonus
Dysphonia Dystonia (any or unspecified) Dystonia, tongue Dystonia, leg Dystonia, cervical Dystonia, craniofacial Dystonia, generalized Dystonia, laryngeal Dystonia, limb Dystonia, jaw Dysarthria Dystonia, arm Show more (+10) |
n.a.
|