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,generalized
Myoclonus, lower limb Myoclonus, cervical Dystonia, truncal Dystonia (any or unspecified) Myoclonus, Upper Limb Myoclonus, action Dystonia, upper limb Dystonia, cervical Myoclonus Myoclonus, face Myoclonus at rest Myoclonus, axial Show more (+10) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
5
|
28
|
Yes
|
Dystonia, truncal
Myoclonus, lower limb Myoclonus, Upper Limb Myoclonus,generalized Myoclonus, axial Dystonia (any or unspecified) Myoclonus, cervical Dystonia, cervical Myoclonus, face Dystonia, upper limb Myoclonus Myoclonus, action Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
6
|
48
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, action Myoclonus |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
2
|
6
|
Yes
|
Myoclonus
Myoclonus, cervical Myoclonus, axial Dystonia, upper limb Myoclonus,generalized Myoclonus, Upper Limb Myoclonus at rest Myoclonus, action Dystonia (any or unspecified) Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
3
|
Yes
|
Myoclonus, axial
Myoclonus, multifocal Myoclonus, cervical Myoclonus Myoclonus, Upper Limb Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
1
|
21
|
Yes
|
Myoclonus
Dystonia, upper limb Dystonia, cervical Myoclonus, action Myoclonus, axial Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, Upper Limb Myoclonus, cervical Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
25
|
Yes
|
Myoclonus, axial
Myoclonus Myoclonus, action Myoclonus, cervical Myoclonus, Upper Limb Myoclonus,generalized Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
3
|
8
|
Yes
|
Writer's Cramp
Myoclonus, action Myoclonus at rest Myoclonus, face Myoclonus,generalized Myoclonus, cervical Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
1
|
18
|
Yes
|
Myoclonus, action
Myoclonus, cervical Myoclonus, Upper Limb Myoclonus Dystonia, cervical Dystonia (any or unspecified) Dystonia, upper limb Myoclonus,generalized Myoclonus, axial Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
B
|
MAR
|
4
|
15
|
Yes
|
Dystonia (any or unspecified)
Myoclonus at rest Myoclonus, cervical Myoclonus, Upper Limb Myoclonus,generalized Writer's Cramp Myoclonus, axial Myoclonus Myoclonus, action Show more (+6) |
n.a.
|