Groen, 2010: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
NLD
|
9
|
53
|
Yes
|
Blepharospasm
Dystonia, axial Dystonia, jaw Dystonia, arm Dystonia, craniofacial Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, leg Dystonia, generalized Dystonia, cervical Dystonia, laryngeal Dystonia,task-specific Dystonia, limb Dystonia, tongue Dystonia, mirror Dysphonia Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
NLD
|
6
|
28
|
No
|
Dystonia, craniofacial
Dystonia,task-specific Dystonia, laryngeal Dystonia, jaw Dystonia, cervical Dystonia, mirror Blepharospasm Dystonia, tongue Dystonia, axial Retrocollis Dystonia (any or unspecified) Dystonia, leg Dystonia, arm Dystonia, generalized Dystonia, limb Dysphonia Dystonia, oromandibular Geste antagoniste Show more (+15) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
13
|
77
|
Yes
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Dystonia, jaw Dystonia, craniofacial Dystonia, tongue Dystonia, oromandibular Dystonia, limb Dystonia, arm Dystonia, cervical Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
NLD
|
12
|
48
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, jaw Dystonia, limb Dystonia, tongue Dystonia, oromandibular Dystonia,task-specific Dystonia, craniofacial Dystonia, cervical Dystonia, hand Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, arm Show more (+9) |
n.a.
|
|
Yes
|
♂
|
C
|
NLD
|
7
|
19
|
Yes
|
Dystonia (any or unspecified)
Dystonia, axial Dystonia,task-specific Dystonia, cervical Dystonia, leg Dystonia, hand Dystonia, generalized Dystonia, limb Dystonia, arm Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
10
|
47
|
Yes
|
Dystonia, jaw
Dystonia, generalized Dystonia,task-specific Dystonia, arm Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, leg Dystonia, hand Dystonia, tongue Dystonia, oromandibular Dystonia, craniofacial Dystonia, cervical Dystonia, axial Dystonia, limb Show more (+11) |
n.a.
|