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