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