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