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