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