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