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