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
|
Dystonia, craniofacial
Dystonia, mirror Dysphonia Dystonia, limb Dystonia, cervical Dystonia (any or unspecified) Dystonia, generalized Dystonia,task-specific Blepharospasm Dystonia, axial Dystonia, laryngeal Dystonia, jaw Dystonia, oromandibular Dystonia, tongue Dystonia, arm Dystonia, leg Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
NLD
|
6
|
28
|
No
|
Geste antagoniste
Dystonia, generalized Dystonia, craniofacial Retrocollis Dystonia, jaw Dystonia (any or unspecified) Dystonia, cervical Dysphonia Dystonia, leg Dystonia,task-specific Dystonia, oromandibular Dystonia, arm Dystonia, laryngeal Blepharospasm Dystonia, tongue Dystonia, mirror Dystonia, limb Dystonia, axial Show more (+15) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
13
|
77
|
Yes
|
Dystonia, tongue
Dystonia, craniofacial Dystonia, cervical Dystonia, limb Dystonia, arm Dystonia, jaw Dystonia, segmental/multifocal Dystonia, oromandibular Dystonia (any or unspecified) Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
NLD
|
12
|
48
|
Yes
|
Dystonia, craniofacial
Dystonia, hand Dystonia, tongue Dystonia, cervical Dystonia, jaw Dystonia, limb Dystonia,task-specific Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, arm Dystonia, oromandibular Dystonia, laryngeal Show more (+9) |
n.a.
|
|
Yes
|
♂
|
C
|
NLD
|
7
|
19
|
Yes
|
Dystonia, limb
Dystonia, cervical Dystonia, axial Dystonia,task-specific Dystonia (any or unspecified) Dystonia, hand Dystonia, leg Dystonia, generalized Dystonia, arm Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
NLD
|
10
|
47
|
Yes
|
Dystonia, leg
Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, generalized Dystonia, laryngeal Dystonia,task-specific Dystonia, cervical Dystonia, tongue Dystonia, jaw Dystonia, axial Dystonia, hand Dystonia, limb Dystonia, arm Show more (+11) |
n.a.
|