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