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