Vemula, 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
O
n.a.
63
67
Yes
Dystonia (any or unspecified)
Tremor, head
Dystonia, hand
Dystonia, generalized
Dystonia, limb
Tremor (any or unspecified)
Dystonia, leg
Dystonic tremor
Dystonia, cervical
Dystonia, arm
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
p.Glu12Gly: het
Yes
C
n.a.
38
56
Yes
Dystonia, cervical
Dystonic tremor
Tremor (any or unspecified)
Dystonia (any or unspecified)
Dystonia, focal
Tremor, head
Show more (+3)
n.a.
Yes
O
n.a.
45
49
Yes
Tremor (any or unspecified)
Dystonic tremor
Dystonia, focal
Tremor, head
Dystonia (any or unspecified)
Dystonia, cervical
Show more (+3)
n.a.
No
O
n.a.
n.a.
78
Yes
Dystonia, arm
Dystonia (any or unspecified)
Dysphonia
Dystonia, hand
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, limb
Show more (+4)
n.a.
No
C
n.a.
41
44
Yes
Tremor, head
Dystonic tremor
Tremor (any or unspecified)
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
Show more (+3)
n.a.
p.Met1?: het
No
O
n.a.
50
80
Yes
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, craniofacial
Tremor, head
Blepharospasm
Dystonic tremor
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, lower face
Dysphonia
Dystonia, oromandibular
Tremor (any or unspecified)
Show more (+9)
n.a.
No
O
n.a.
50
55
Yes
Dystonia, laryngeal
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, arm
Dystonia, limb
Dysphonia
Dystonic tremor
Tremor, head
Dystonia, oromandibular
Dystonia, hand
Dystonia, craniofacial
Dystonia, lower face
Show more (+11)
n.a.
Yes
C
n.a.
40
55
Yes
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
p.Met1?: het
Yes
C
n.a.
45
55
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
p.Arg245*: het