Lohmann, 2012: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
11
|
46
|
No
|
Dystonia, craniofacial
Dystonia, axial Dystonia, cervical Blepharospasm Dystonia, generalized Dystonia (any or unspecified) Dystonia, leg Dystonia, arm Dystonia, limb Dystonia, laryngeal Dysphonia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
32
|
No
|
Dystonia, laryngeal
Dystonia, limb Dysphonia Dystonia, cervical Dystonia, generalized Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
33
|
Yes
|
Dystonic tremor
Tremor, limb Dystonia,task-specific Dystonia, segmental/multifocal Dystonia, hand Tremor (any or unspecified) Dystonia, limb Dystonia, arm Dystonia (any or unspecified) Show more (+6) |
Dystonia, arm
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
49
|
59
|
Yes
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, focal |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
41
|
54
|
No
|
Dystonia, focal
Dystonia (any or unspecified) Dystonia, cervical |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
10
|
56
|
Yes
|
Dystonia, arm
Dystonia, segmental/multifocal Dystonia, laryngeal Myoclonus Dystonia (any or unspecified) Dystonia, leg Dysphonia Dystonia, limb Dystonia, oromandibular Dystonia, cervical Dystonia, craniofacial Show more (+8) |
Dystonia, arm
Dystonia, leg |
|
Yes
|
♂
|
n.a.
|
n.a.
|
33
|
35
|
No
|
Dystonia, limb
Dystonia, focal Dystonia (any or unspecified) Dystonia,task-specific Dystonia, arm Dystonia, hand Show more (+3) |
Dystonia, arm
Dystonia, hand |