Dobričić, 2013: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
SRB
|
7
|
24
|
No
|
Myoclonus
Dystonia (any or unspecified) Dystonia, arm Dystonia, limb Dystonia, segmental/multifocal Show more (+2) |
Dystonia, arm
|
|
Yes
|
♂
|
C
|
SRB
|
12
|
25
|
No
|
Dystonia, segmental/multifocal
Dystonia, tongue Dystonia, arm Dystonia, lower face Dystonia, leg Dysarthria Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, cervical Dystonia, jaw Dystonia, limb Show more (+8) |
n.a.
|
|
Yes
|
♂
|
C
|
SRB
|
36
|
40
|
No
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, segmental/multifocal Dysphonia Dystonia, laryngeal Show more (+2) |
n.a.
|
|
Yes
|
♂
|
C
|
SRB
|
41
|
50
|
No
|
n.a.
|
||
Yes
|
♀
|
C
|
SRB
|
7
|
28
|
No
|
Dystonia, generalized
Dystonia, leg Dystonia (any or unspecified) Dystonia, arm Dystonia, axial Dystonia, limb Show more (+3) |
Dystonia, arm
|
|
Yes
|
♂
|
C
|
SRB
|
26
|
26
|
No
|
Dystonia, cervical
Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, arm Dystonia, limb Show more (+2) |
Dystonia, arm
|