Nardocci, 2008: 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.
C
ITA
6
19
Yes
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, action
Myoclonus, face
Myoclonus,generalized
Myoclonus, cervical
Dystonia, cervical
Myoclonus
Dystonia, truncal
Myoclonus at rest
Myoclonus, lower limb
Myoclonus, axial
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n.a.
Yes
n.a.
C
ITA
5
28
Yes
Myoclonus, face
Dystonia, upper limb
Myoclonus,generalized
Dystonia (any or unspecified)
Dystonia, truncal
Myoclonus, action
Myoclonus, cervical
Myoclonus, axial
Dystonia, cervical
Myoclonus, lower limb
Myoclonus, Upper Limb
Myoclonus
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n.a.
p.Trp270*: het
No
C
ITA
6
48
Yes
Myoclonus, action
Myoclonus
Myoclonus, Upper Limb
n.a.
p.Arg102*: het
Yes
n.a.
C
ITA
2
6
Yes
Myoclonus, cervical
Myoclonus
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus,generalized
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus at rest
Myoclonus, axial
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n.a.
p.Arg102*: het
No
n.a.
C
ITA
1
3
Yes
Myoclonus, axial
Myoclonus
Myoclonus, Upper Limb
Myoclonus, multifocal
Myoclonus, cervical
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n.a.
Yes
n.a.
C
ITA
1
21
Yes
Myoclonus, action
Myoclonus, cervical
Myoclonus,generalized
Dystonia (any or unspecified)
Dystonia, upper limb
Dystonia, cervical
Myoclonus, axial
Myoclonus
Myoclonus, Upper Limb
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n.a.
No
n.a.
C
ITA
1
25
Yes
Myoclonus
Myoclonus,generalized
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, action
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n.a.
Yes
n.a.
C
ITA
3
8
Yes
Myoclonus, cervical
Writer's Cramp
Myoclonus
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus,generalized
Myoclonus, face
Dystonia (any or unspecified)
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n.a.
c.663-1G>A: het
No
n.a.
C
ITA
1
18
Yes
Myoclonus, action
Myoclonus, axial
Myoclonus
Myoclonus,generalized
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, cervical
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n.a.
Yes
n.a.
B
MAR
4
15
Yes
Myoclonus, action
Myoclonus, axial
Myoclonus
Myoclonus at rest
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Writer's Cramp
Myoclonus, cervical
Myoclonus,generalized
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n.a.
p.Tyr134*: het