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, arm
Dystonia, axial Dystonia, limb Dystonia, leg Dystonia, generalized Dysphonia Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, laryngeal Blepharospasm Dystonia, cervical Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
32
|
No
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, limb Dysphonia Dystonia, laryngeal Dystonia, cervical Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
9
|
33
|
Yes
|
Dystonia, segmental/multifocal
Tremor (any or unspecified) Dystonia, arm Tremor, limb Dystonia, limb Dystonic tremor Dystonia, hand Dystonia,task-specific Dystonia (any or unspecified) Show more (+6) |
Dystonia, arm
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
49
|
59
|
Yes
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, cervical |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
41
|
54
|
No
|
Dystonia, focal
Dystonia, cervical Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
10
|
56
|
Yes
|
Dystonia, laryngeal
Dystonia, segmental/multifocal Dystonia, leg Dystonia, limb Dystonia (any or unspecified) Myoclonus Dystonia, cervical Dystonia, oromandibular Dystonia, arm Dystonia, craniofacial Dysphonia Show more (+8) |
Dystonia, leg
Dystonia, arm |
|
Yes
|
♂
|
n.a.
|
n.a.
|
33
|
35
|
No
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, focal Dystonia, arm Dystonia, hand Dystonia,task-specific Show more (+3) |
Dystonia, arm
Dystonia, hand |