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