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