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, hand
Dystonia, generalized Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Dystonia, foot Dystonia, leg Show more (+4) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
O
|
BRA
|
7
|
38
|
n.a.
|
Dystonia, generalized
Dystonia, laryngeal Dystonia, cervical Dystonia, foot Dystonia (any or unspecified) Dystonia, hand Dystonia, arm Dystonia, limb Dystonia, axial Dysphonia Dystonia, leg Show more (+8) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♂
|
O
|
BRA
|
3
|
17
|
Yes
|
Dystonia, arm
Dystonia, cervical Dystonia (any or unspecified) Dystonia, axial Dystonia, hand Dystonia, limb Show more (+3) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♀
|
O
|
BRA
|
15
|
30
|
Yes
|
Dystonia, leg
Dystonia, craniofacial Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, limb Dysphonia Dystonia, generalized Dystonia, laryngeal Dystonia, foot Dystonia, arm Dystonia, cervical Dystonia, hand Show more (+9) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♀
|
O
|
BRA
|
15
|
29
|
No
|
Dystonia, axial
Dystonia, cervical Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, laryngeal Dysphonia Show more (+3) |
n.a.
|
|
No
|
♂
|
O
|
BRA
|
14
|
16
|
Yes
|
Dystonia, axial
Dystonia, segmental/multifocal Dystonia, cervical Dystonia (any or unspecified) Show more (+1) |
n.a.
|
|
Yes
|
♂
|
O
|
BRA
|
7
|
25
|
Yes
|
Dystonia, cervical
Dystonia (any or unspecified) Dystonia, axial Dystonia, segmental/multifocal Dystonia, laryngeal Dysphonia Show more (+3) |
n.a.
|
|
Yes
|
♂
|
O
|
BRA
|
9
|
38
|
n.a.
|
Dystonia, cervical
Dystonia, limb Dystonia, hand Dystonia, generalized Dystonia, arm Dystonia, foot Dystonia, leg Dystonia (any or unspecified) Dystonia, axial Show more (+6) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♂
|
O
|
BRA
|
17
|
36
|
n.a.
|
Dystonia, generalized
Dystonia, arm Dysphonia Dystonia (any or unspecified) Dystonia, hand Dystonia, cervical Dystonia, laryngeal Dystonia, leg Dystonia, foot Dystonia, axial Dystonia, limb Show more (+8) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♀
|
O
|
BRA
|
7
|
19
|
No
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, limb Dystonia, cervical Dystonia, leg Dystonia, foot Dystonia, arm Dystonia, hand Dystonia, axial Show more (+6) |
Dystonia, leg
Dystonia, foot |