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