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