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