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