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