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