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