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
Blepharospasm Dystonia, arm Dystonia, cervical Dystonia, generalized Dystonia, leg Dystonia, craniofacial Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
20
|
71
|
Yes
|
Dystonia, tongue
Dystonia, arm Dystonia, laryngeal Dystonia, generalized Dystonia, cervical Dystonia, leg Dystonia, jaw Dystonia, craniofacial Myoclonus Dysphonia Dysarthria Dystonia, limb Dystonia (any or unspecified) Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
20
|
60
|
Yes
|
Dystonia, cervical
Dystonia, focal Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
12
|
25
|
No
|
Dystonia, arm
Dystonia, craniofacial Blepharospasm Dysphonia Dystonia (any or unspecified) Dystonia, generalized Dystonia, leg Dystonia, limb Dystonia, laryngeal Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
30
|
No
|
Dystonia, jaw
Dystonia, cervical Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, arm Dysarthria Dysphonia Dystonia, laryngeal Dystonia, limb Dystonia, tongue Dystonia, craniofacial Show more (+8) |
Dystonia, arm
|
|
No
|
♀
|
n.a.
|
n.a.
|
13
|
17
|
Yes
|
Dystonia, jaw
Dystonia, limb Dystonia, craniofacial Dystonia, leg Dystonia, generalized Dystonia, laryngeal Myoclonus Dystonia, tongue Dystonia (any or unspecified) Dystonia, arm Dysarthria Dystonia, cervical Dysphonia Show more (+10) |
n.a.
|