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