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