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