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