Carecchio, 2013: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
6
30
No
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Dystonia, cervical
Dystonia, upper limb
Myoclonus, multifocal
Myoclonus, cervical
Myoclonus
Anxiety panic attacks
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Dystonia, cervical
Dystonia, upper limb
Yes
n.a.
n.a.
19
51
n.a.
Obssesive Compulsive Disorder
Depression
Dystonia (any or unspecified)
Dystonia, cervical
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n.a.
Yes
n.a.
n.a.
4
30
No
Anxiety panic attacks
Depression
Myoclonus
Myoclonus, lower limb
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n.a.
p.Arg372*: het
Yes
n.a.
n.a.
2
66
No
Dystonia, cervical
Dystonia, upper limb
Myoclonus, cervical
Myoclonus,generalized
Myoclonus
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus, multifocal
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Dystonia, upper limb
p.Arg97*: het
Yes
n.a.
n.a.
2
8
No
Myoclonus
Dystonia, truncal
Dystonia (any or unspecified)
Myoclonus, lower limb
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n.a.
c.109+1G>A: het
Yes
n.a.
n.a.
5
70
Yes
Myoclonus, multifocal
Myoclonus, Upper Limb
Dystonia, cervical
Dystonia (any or unspecified)
Myoclonus
Dystonia, lower limb
Dystonia, upper limb
Myoclonus, lower limb
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Dystonia (any or unspecified)
Myoclonus
Yes
n.a.
n.a.
1
33
Yes
Myoclonus, lower limb
Dystonia (any or unspecified)
Myoclonus
Dystonia, upper limb
Dystonia, cervical
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus,generalized
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Myoclonus, lower limb
Myoclonus, Upper Limb
Yes
n.a.
n.a.
3
75
No
Anxiety panic attacks
Dystonia, upper limb
Myoclonus, Upper Limb
Myoclonus,generalized
Myoclonus, cervical
Myoclonus, axial
Myoclonus
Myoclonus, lower limb
Dystonia (any or unspecified)
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Myoclonus
Dystonia (any or unspecified)