Charlesworth, 2012: Overview of all reported DYT-ANO3 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
GBR
|
27
|
n.a.
|
n.a.
|
Dystonia, cervical
Dystonia, laryngeal Tremor, limb Dystonic tremor Torticollis Postural tremor Dystonia, segmental/multifocal Dystonia (any or unspecified) Dysphonia Tremor (any or unspecified) Tremor, head Show more (+8) |
n.a.
|
|
No
|
♂
|
C
|
GBR
|
30
|
69
|
n.a.
|
Dystonia, lower face
Tremor, head Dystonia, laryngeal Dystonia, limb Dystonia, craniofacial Dystonia, oromandibular Dystonic tremor Dystonia (any or unspecified) Tremor, limb Dysphonia Torticollis Tremor (any or unspecified) Blepharospasm Dystonia, segmental/multifocal Dystonia, cervical Show more (+12) |
n.a.
|
|
No
|
♀
|
C
|
GBR
|
30
|
n.a.
|
n.a.
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Postural tremor Tremor, limb Torticollis Dystonic tremor Tremor, head Dysphonia Dystonia, laryngeal Dystonia, cervical Tremor (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
19
|
36
|
n.a.
|
Dysphonia
Dystonia, cervical Dystonia, laryngeal Dystonia (any or unspecified) Tremor, head Dystonia, segmental/multifocal Torticollis Dystonic tremor Tremor (any or unspecified) Dystonia, limb Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
5
|
39
|
n.a.
|
Tremor (any or unspecified)
Torticollis Dystonia, limb Dystonic tremor Myoclonus Dystonia, laryngeal Dystonia, lower face Dystonia, craniofacial Dystonia, segmental/multifocal Dystonia (any or unspecified) Tremor, limb Dystonia, oromandibular Blepharospasm Dystonia, hand Dysphonia Dystonia, cervical Retrocollis Show more (+14) |
n.a.
|
|
No
|
♂
|
C
|
GBR
|
30
|
37
|
n.a.
|
Tremor, limb
Postural tremor Dystonia, limb Tremor (any or unspecified) Dystonia, hand Dystonic tremor Dystonia, arm Dystonia (any or unspecified) Dystonia, segmental/multifocal Show more (+6) |
Dystonia, arm
|
|
Yes
|
♀
|
C
|
GBR
|
6
|
31
|
n.a.
|
Dysphonia
Tremor, limb Torticollis Dystonic tremor Dystonia, segmental/multifocal Tremor, action Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, laryngeal Postural tremor Tremor, head Dystonia, cervical Dystonia, limb Show more (+10) |
Tremor, head
|
|
No
|
♂
|
C
|
GBR
|
6
|
9
|
n.a.
|
Tremor (any or unspecified)
Dystonia, arm Tremor, action Dystonia, limb Tremor, limb Dystonia, focal Dystonia (any or unspecified) Myoclonus Show more (+5) |
Dystonia, arm
|
|
No
|
♂
|
C
|
GBR
|
40
|
67
|
n.a.
|
Cognitive impairment
Dystonia, segmental/multifocal Tremor, limb Dystonic tremor Dystonia, cervical Torticollis Tremor (any or unspecified) Dysarthria Postural tremor Tremor, head Blepharospasm Dystonia (any or unspecified) Dystonia, laryngeal Dysphonia Dystonia, craniofacial Show more (+12) |
n.a.
|
|
Yes
|
n.a.
|
C
|
GBR
|
n.a.
|
n.a.
|
No
|
Tremor, limb
Dystonia, cervical Dystonia, segmental/multifocal Tremor (any or unspecified) Myoclonus Dystonia (any or unspecified) Show more (+3) |
n.a.
|