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