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 (any or unspecified)
Dystonia, cervical
Postural tremor
Tremor, limb
Tremor (any or unspecified)
Dystonic tremor
Dysphonia
Dystonia, laryngeal
Torticollis
Dystonia, segmental/multifocal
Tremor, head
Show more (+8)
n.a.
No
♂
C
GBR
30
69
n.a.
Torticollis
Tremor, limb
Dysphonia
Dystonia, limb
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, cervical
Tremor, head
Blepharospasm
Dystonia, lower face
Tremor (any or unspecified)
Dystonia, oromandibular
Dystonic tremor
Dystonia, segmental/multifocal
Show more (+12)
n.a.
No
♀
C
GBR
30
n.a.
n.a.
Dystonia, cervical
Postural tremor
Dysphonia
Tremor, limb
Dystonic tremor
Dystonia, segmental/multifocal
Tremor, head
Dystonia, laryngeal
Dystonia (any or unspecified)
Torticollis
Tremor (any or unspecified)
Show more (+8)
n.a.
Yes
♀
C
GBR
19
36
n.a.
Tremor (any or unspecified)
Torticollis
Dysphonia
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, laryngeal
Tremor, head
Dystonia, segmental/multifocal
Dystonic tremor
Dystonia, cervical
Show more (+7)
n.a.
Yes
♀
C
GBR
5
39
n.a.
Tremor (any or unspecified)
Dystonia, oromandibular
Dysphonia
Tremor, limb
Dystonia (any or unspecified)
Dystonia, lower face
Dystonia, hand
Blepharospasm
Myoclonus
Dystonia, limb
Dystonia, craniofacial
Dystonia, segmental/multifocal
Retrocollis
Dystonia, laryngeal
Dystonic tremor
Dystonia, cervical
Torticollis
Show more (+14)
n.a.
No
♂
C
GBR
30
37
n.a.
Dystonia, limb
Dystonia, segmental/multifocal
Dystonic tremor
Dystonia (any or unspecified)
Tremor, limb
Postural tremor
Dystonia, hand
Tremor (any or unspecified)
Dystonia, arm
Show more (+6)
Dystonia, arm
Yes
♀
C
GBR
6
31
n.a.
Tremor (any or unspecified)
Dystonic tremor
Tremor, action
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, cervical
Dysphonia
Postural tremor
Tremor, limb
Tremor, head
Torticollis
Dystonia, laryngeal
Dystonia (any or unspecified)
Show more (+10)
Tremor, head
No
♂
C
GBR
6
9
n.a.
Tremor (any or unspecified)
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, arm
Tremor, limb
Myoclonus
Tremor, action
Dystonia, limb
Show more (+5)
Dystonia, arm
No
♂
C
GBR
40
67
n.a.
Dystonic tremor
Postural tremor
Dystonia, cervical
Dysphonia
Dystonia, laryngeal
Tremor (any or unspecified)
Tremor, limb
Blepharospasm
Tremor, head
Dystonia, segmental/multifocal
Dysarthria
Dystonia, craniofacial
Torticollis
Cognitive impairment
Dystonia (any or unspecified)
Show more (+12)
n.a.
Yes
n.a.
C
GBR
n.a.
n.a.
No
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus
Dystonia, segmental/multifocal
Tremor (any or unspecified)
Tremor, limb
Show more (+3)
n.a.
c.-190C>T: het