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