Fuchs, 2013: Overview of all reported DYT-GNAL patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
n.a.
26
62
Yes
Dystonia, laryngeal
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Blepharospasm
Dystonia, lower face
Dystonia, craniofacial
Show more (+4)
n.a.
No
C
n.a.
44
63
Yes
Dystonia, lower face
Dystonia, limb
Dystonia, axial
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, cervical
Blepharospasm
Dystonia, arm
Dystonia, tongue
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, craniofacial
Show more (+9)
n.a.
No
C
n.a.
17
38
Yes
Dystonia, cervical
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, lower face
Dystonia, segmental/multifocal
Show more (+3)
n.a.
Yes
C
n.a.
39
44
Yes
Dystonia, craniofacial
Dystonia, tongue
Dystonia, segmental/multifocal
Dystonia, jaw
Dystonia (any or unspecified)
Show more (+2)
Dystonia, jaw
No
C
n.a.
31
41
Yes
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
Yes
C
n.a.
38
39
Yes
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
Yes
C
n.a.
18
38
Yes
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, focal
n.a.
Yes
C
n.a.
25
45
Yes
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, cervical
n.a.
p.Arg21*: het
No
C
n.a.
19
51
Yes
Dystonia, craniofacial
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, axial
Dystonia, cervical
Dystonia, jaw
Blepharospasm
Dystonia, lower face
Show more (+6)
n.a.
No
C
n.a.
48
68
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
p.Ser293*: het