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