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