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