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