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