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