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