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