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