da Silva-Junior, 2014: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
O
|
BRA
|
3
|
9
|
Yes
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Dystonia, foot Dystonia, leg Dystonia, hand Show more (+4) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
O
|
BRA
|
7
|
38
|
n.a.
|
Dystonia, cervical
Dystonia, limb Dysphonia Dystonia, hand Dystonia, foot Dystonia (any or unspecified) Dystonia, arm Dystonia, axial Dystonia, generalized Dystonia, leg Dystonia, laryngeal Show more (+8) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♂
|
O
|
BRA
|
3
|
17
|
Yes
|
Dystonia, arm
Dystonia, hand Dystonia, cervical Dystonia, axial Dystonia (any or unspecified) Dystonia, limb Show more (+3) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♀
|
O
|
BRA
|
15
|
30
|
Yes
|
Dystonia, oromandibular
Dystonia, cervical Dystonia, craniofacial Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, arm Dystonia, leg Dystonia, generalized Dystonia, foot Dysphonia Dystonia, limb Dystonia, hand Show more (+9) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♀
|
O
|
BRA
|
15
|
29
|
No
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Dystonia, cervical Dystonia, laryngeal Dysphonia Dystonia, axial Show more (+3) |
n.a.
|
|
No
|
♂
|
O
|
BRA
|
14
|
16
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, cervical Dystonia (any or unspecified) Dystonia, axial Show more (+1) |
n.a.
|
|
Yes
|
♂
|
O
|
BRA
|
7
|
25
|
Yes
|
Dystonia, cervical
Dystonia, laryngeal Dystonia, axial Dystonia, segmental/multifocal Dystonia (any or unspecified) Dysphonia Show more (+3) |
n.a.
|
|
Yes
|
♂
|
O
|
BRA
|
9
|
38
|
n.a.
|
Dystonia, axial
Dystonia, arm Dystonia, limb Dystonia, generalized Dystonia, cervical Dystonia, leg Dystonia (any or unspecified) Dystonia, foot Dystonia, hand Show more (+6) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♂
|
O
|
BRA
|
17
|
36
|
n.a.
|
Dystonia, leg
Dystonia, axial Dystonia, limb Dystonia, hand Dysphonia Dystonia (any or unspecified) Dystonia, cervical Dystonia, generalized Dystonia, laryngeal Dystonia, foot Dystonia, arm Show more (+8) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♀
|
O
|
BRA
|
7
|
19
|
No
|
Dystonia, limb
Dystonia, generalized Dystonia, cervical Dystonia, hand Dystonia, leg Dystonia, arm Dystonia, foot Dystonia (any or unspecified) Dystonia, axial Show more (+6) |
Dystonia, leg
Dystonia, foot |