Miyamoto, 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
|
♂
|
A
|
JPN
|
12
|
34
|
Yes
|
Dysphonia
Cognitive impairment Dystonia, arm Dystonia, craniofacial Dystonia, limb Dystonia, generalized Dystonia (any or unspecified) Dystonia, leg Dystonia, axial Dystonia, cervical Retrocollis Dyskinesia Dystonia, hand Show more (+10) |
Dystonia, arm
Dystonia, leg |
|
No
|
♀
|
A
|
JPN
|
n.a.
|
59
|
Yes
|
n.a.
|
||
No
|
♀
|
A
|
JPN
|
n.a.
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia, limb Cognitive impairment Dysphonia Dystonia, generalized Dystonia (any or unspecified) Dystonia, arm Dystonia, craniofacial Dystonia, laryngeal Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
JPN
|
n.a.
|
n.a.
|
Yes
|
Dystonia, generalized
Dysphonia Dystonia, arm Cognitive impairment Dystonia, laryngeal Dystonia, cervical Dystonia (any or unspecified) Dystonia, limb Dystonia, craniofacial Show more (+6) |
n.a.
|
|
No
|
♂
|
A
|
JPN
|
19
|
n.a.
|
Yes
|
Tremor, action
Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Tremor, limb Dystonia, segmental/multifocal Rigidity Tremor (any or unspecified) Show more (+5) |
Dystonia, arm
|
|
No
|
♀
|
A
|
JPN
|
n.a.
|
n.a.
|
Yes
|
Dysphonia
Dystonia, arm Dystonia, generalized Dystonia, cervical Cognitive impairment Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, limb Dystonia, craniofacial Show more (+6) |
n.a.
|