Frédéric, 2008: Overview of all reported DYT-TOR1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
n.a.
|
24
|
Yes
|
Dystonia (any or unspecified)
Dystonia, generalized |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
10
|
10
|
Yes
|
Dystonia, foot
|
||
Yes
|
♀
|
JA
|
n.a.
|
6
|
35
|
No
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, generalized Dystonia, cervical Dystonia, foot Dysarthria Dystonia, craniofacial Dystonia, axial Dystonia, laryngeal Dystonia, oromandibular Show more (+7) |
Dystonia, foot
|
|
Yes
|
♂
|
O
|
n.a.
|
9
|
n.a.
|
n.a.
|
Dystonia, limb
|
||
Yes
|
♂
|
O
|
n.a.
|
7
|
27
|
No
|
Dystonia, hand
Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Show more (+1) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
29
|
No
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Dystonia, limb |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
5
|
31
|
Yes
|
Dystonia, limb
Dystonia, segmental/multifocal Dystonia, axial Dystonia (any or unspecified) Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
12
|
68
|
No
|
Dystonia, hand
Dystonia, craniofacial Dystonia, limb Dystonia, axial Dystonia, cervical Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, generalized Show more (+6) |
Dystonia, hand
|
|
Yes
|
♂
|
O
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
|
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
14
|
25
|
No
|
Dystonia, limb
Dystonia, oromandibular Dystonia, axial Dystonia, cervical Dystonia, craniofacial Dystonia (any or unspecified) Dysarthria Dystonia, generalized Show more (+5) |
Dystonia, cervical
|
|
Yes
|
♀
|
C
|
n.a.
|
n.a.
|
n.a.
|
No
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, segmental/multifocal |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
n.a.
|
8
|
19
|
Yes
|
Dystonia, hand
|
||
Yes
|
♂
|
JA
|
n.a.
|
9
|
54
|
No
|
Dystonia, axial
Dystonia, foot Dystonia, limb Dystonia (any or unspecified) Dystonia, generalized Show more (+2) |
Dystonia, foot
|
|
Yes
|
♀
|
O
|
n.a.
|
5
|
16
|
No
|
Dystonia, limb
|
||
Yes
|
♂
|
C
|
n.a.
|
5
|
18
|
No
|
Dysarthria
Dystonia, limb Dystonia, craniofacial Blepharospasm Dystonia (any or unspecified) Dystonia, generalized Dystonia, hand Dystonia, cervical Dystonia, axial Show more (+6) |
Dystonia, hand
|
|
Yes
|
♀
|
O
|
n.a.
|
6
|
14
|
Yes
|
Dystonia, generalized
Dystonia, axial Dystonia, cervical Dystonia, limb Dystonia, oromandibular Dysarthria Dystonia, craniofacial Dystonia (any or unspecified) Show more (+5) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
n.a.
|
10
|
20
|
No
|
Dystonia, limb
|
||
Yes
|
♀
|
JA
|
n.a.
|
16
|
51
|
Yes
|
Dystonia, cervical
Dystonia, oromandibular Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, limb Dystonia, craniofacial Blepharospasm Show more (+4) |
Dystonia, cervical
|
|
Yes
|
♂
|
C
|
n.a.
|
10
|
13
|
Yes
|
Dystonia, limb
Dystonia, segmental/multifocal Dystonia (any or unspecified) |
Dystonia, limb
|
|
Yes
|
♀
|
JA
|
n.a.
|
12
|
50
|
No
|
Dystonia (any or unspecified)
Blepharospasm Dystonia, limb Dystonia, hand Dystonia, craniofacial Dystonia, segmental/multifocal Show more (+3) |
Dystonia, hand
|
|
Yes
|
♂
|
C
|
n.a.
|
41
|
51
|
Yes
|
Dystonia, hand
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
|
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
6
|
48
|
Yes
|
Dystonia, oromandibular
Dystonia, cervical Dystonia, generalized Dystonia, axial Dystonia, limb Dystonia (any or unspecified) Dystonia, craniofacial Show more (+4) |
Dystonia, limb
|
|
Yes
|
♂
|
JA
|
n.a.
|
18
|
70
|
Yes
|
Dystonia, limb
Dystonia, foot Dystonia, segmental/multifocal Dystonia (any or unspecified) Show more (+1) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
n.a.
|
12
|
29
|
Yes
|
Dystonia (any or unspecified)
Dystonia, hand Dystonia, limb Dystonia, generalized Dystonia, axial Show more (+2) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
55
|
No
|
Dystonia, axial
Dystonia, cervical Dysarthria Dystonia, hand Blepharospasm Dystonia, limb Dystonia, generalized Dystonia, craniofacial Dystonia (any or unspecified) Show more (+6) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
10
|
11
|
Yes
|
Dystonia, foot
Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Show more (+1) |
Dystonia, foot
|
|
Yes
|
♂
|
JA
|
n.a.
|
11
|
33
|
Yes
|
Dystonia, limb
Dystonia, segmental/multifocal Dystonia, hand Dystonia (any or unspecified) Show more (+1) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
20
|
23
|
Yes
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Dystonia, foot Dystonia, limb Show more (+1) |
Dystonia, foot
|
|
Yes
|
♂
|
O
|
n.a.
|
16
|
n.a.
|
No
|
Dystonia, axial
Dystonia, limb Dystonia, generalized Dystonia (any or unspecified) Dystonia, cervical Show more (+2) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
10
|
28
|
Yes
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Dystonia, hand Dystonia, limb Show more (+1) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
20
|
46
|
Yes
|
Dystonia, limb
Dystonia, axial Dystonia, cervical Dystonia, hand Dystonia (any or unspecified) Dystonia, generalized Show more (+3) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
n.a.
|
8
|
42
|
No
|
Dystonia, axial
Dystonia, craniofacial Dysarthria Dystonia, hand Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Dystonia, oromandibular Show more (+5) |
Dystonia, hand
|
|
Yes
|
♂
|
O
|
n.a.
|
9
|
41
|
Yes
|
Dystonia, craniofacial
Dystonia, cervical Dystonia, oromandibular Blepharospasm Dysarthria Dystonia (any or unspecified) Dystonia, axial Dystonia, limb Dystonia, generalized Show more (+6) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
n.a.
|
9
|
16
|
No
|
Dystonia, limb
|
||
Yes
|
♀
|
C
|
n.a.
|
7
|
13
|
Yes
|
Dystonia, craniofacial
Dystonia, oromandibular Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Dystonia, cervical Show more (+3) |
Dystonia, limb
|
|
Yes
|
♂
|
C
|
n.a.
|
10
|
12
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, focal Dystonia, limb |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
n.a.
|
6
|
22
|
No
|
Dystonia, cervical
Dystonia, limb Dystonia, generalized Dystonia, axial Dystonia, hand Dystonia (any or unspecified) Show more (+3) |
Dystonia, hand
|