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