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