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