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