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