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